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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4683353copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,216,308-149,270,530 , GRCh38.p12 chr2: 148,458,739-148,512,961 MBD5
    nsv7095436copy number variation1nstd102humanPathogenic GRCh37 chr18: 2,656,075-2,688,765 , GRCh38.p12 chr18: 2,656,076-2,688,767 SMCHD1
    nsv7098562copy number variation1nstd102humanPathogenic GRCh37 chrX: 53,263,401-53,280,376 , GRCh38.p12 chrX: 53,234,219-53,251,194 IQSEC2
    nsv6311459copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,216,328-149,228,050 , GRCh38.p12 chr2: 148,458,759-148,470,481 MBD5
    nsv4682039copy number variation1nstd102humanPathogenic GRCh37 chr7: 66,094,032-66,105,401 , GRCh38.p12 chr7: 66,629,045-66,640,414 KCTD7
    nsv5381724copy number variation1nstd102humanPathogenic GRCh37 chr7: 66,094,052-66,104,219 , GRCh38.p12 chr7: 66,629,065-66,639,232 KCTD7
    nsv4683691copy number variation1nstd102humanPathogenic GRCh37 chr2: 149,216,308-149,221,508 , GRCh38.p12 chr2: 148,458,739-148,463,939 MBD5
    nsv3879054copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr16: 2,546,130-2,550,979 , GRCh38 chr16: 2,496,129-2,500,978 TBC1D24
    nsv6309664copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr16: 2,546,150-2,550,959 , GRCh38.p12 chr16: 2,496,149-2,500,958 TBC1D24
    nsv7148163copy number variation1nstd102humanPathogenic GRCh38 chr1: 244,051,186-244,055,631 , GRCh37.p13 chr1: 244,214,488-244,218,933 ZBTB18
    nsv7095727copy number variation1nstd102humanPathogenic GRCh37 chr19: 7,617,787-7,622,096 , GRCh38.p12 chr19: 7,552,901-7,557,210 PNPLA6
    nsv5672910copy number variation1nstd102humanPathogenic GRCh37 chr19: 7,604,804-7,607,970 , GRCh38.p12 chr19: 7,539,918-7,543,084 PNPLA6
    nsv4684110copy number variation1nstd102humanPathogenic GRCh37 chrX: 128,946,967-128,948,896 , GRCh38.p12 chrX: 129,812,991-129,814,920 ZDHHC9
    nsv3871344copy number variation1nstd102humanPathogenic GRCh38 chr7: 2,914,850-2,916,262 , GRCh37.p13 chr7: 2,954,484-2,955,896 CARD11
    nsv3874075copy number variation1nstd102humanPathogenic GRCh38 chr7: 66,638,233-66,639,252 , GRCh37 chr7: 66,103,220-66,104,239 KCTD7
    nsv6312787copy number variation1nstd102humanPathogenic GRCh37 chr7: 66,103,220-66,104,219 , GRCh38.p12 chr7: 66,638,233-66,639,232 KCTD7
    nsv6313460copy number variation1nstd102humanPathogenic GRCh37 chrX: 53,279,441-53,280,376 , GRCh38.p12 chrX: 53,250,259-53,251,194 IQSEC2
    nsv6310252copy number variation1nstd102humanPathogenic GRCh37 chr18: 2,666,136-2,667,050 , GRCh38.p12 chr18: 2,666,137-2,667,051 SMCHD1
    nsv7095299copy number variation1nstd102humanPathogenic GRCh37 chr19: 7,618,738-7,619,178 , GRCh38.p12 chr19: 7,553,852-7,554,292 PNPLA6
    nsv6310352copy number variation1nstd102humanPathogenic GRCh37 chr18: 2,656,075-2,656,280 , GRCh38.p12 chr18: 2,656,076-2,656,281 SMCHD1
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