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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6311160copy number variation1nstd102humanUncertain significance GRCh37 chr21: 38,437,882-38,444,887 , GRCh38.p12 chr21: 37,065,582-37,072,587 TTC3, PIGP
    nsv3897130copy number variation1nstd102humanBenign GRCh37 chr21: 38,371,327-38,444,890 , GRCh38.p12 chr21: 36,999,027-37,072,590 TTC3, RNU6-696P, 2 more genes
    nsv4457402copy number variation1nstd102humanUncertain significance GRCh37 chr21: 38,385,744-38,450,578 , GRCh38.p12 chr21: 37,013,444-37,078,278 TTC3, RNU6-696P, 2 more genes
    nsv3923176copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352 TTC3, COL18A1-AS2, 682 more genes
    nsv3905423copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014 TTC3, MTND5P1, 581 more genes
    nsv3917693copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,749,532-37,653,653 , GRCh37 chr21: 15,451,032-39,025,955 , NCBI36 chr21: 14,372,903-37,947,825 TTC3, DPRXP5, 448 more genes
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv3900501copy number variation1nstd102humanPathogenic GRCh38 chr1: 3,006,193-17,688,934 , GRCh37 chr1: 2,922,757-18,015,429 , NCBI36 chr1: 2,912,617-17,888,016 MFFP1, RPL21P21, 364 more genes
    nsv3900236copy number variation1nstd102humanPathogenic GRCh38 chr1: 5,363,826-18,360,302 , GRCh37 chr1: 5,423,886-18,686,796 , NCBI36 chr1: 5,323,746-18,559,383 PDPN, PADI1, 333 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv3913105copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,162,250-48,056,450 , GRCh38 chr21: 34,789,953-46,636,538 , NCBI36 chr21: 35,084,120-46,880,878 TTC3, KRTAP10-12, 287 more genes
    nsv3908171copy number variation1nstd102humanPathogenic GRCh37 chr21: 37,914,123-48,097,372 , GRCh38.p12 chr21: 36,541,825-46,677,460 TTC3, AIRE, 256 more genes
    nsv3891817copy number variation1nstd102humanPathogenic NCBI36 chr21: 34,449,822-43,171,589 , GRCh37 chr21: 35,527,952-44,298,520 , GRCh38.p12 chr21: 34,155,652-42,878,410 TTC3, LOC107985513, 168 more genes
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 EMC1-AS1, TRV-CAC11-2, 166 more genes
    nsv3912629copy number variation1nstd102humanPathogenic NCBI36 chr21: 37,429,908-42,727,694 , GRCh37 chr21: 38,508,038-43,854,625 , GRCh38 chr21: 37,135,738-42,434,515 TTC3, LCA5L, 98 more genes
    nsv4728309copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371 RNU1-6P, TRG-CCC4-1, 150 more genes
    nsv3924469copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,916,169-41,365,265 , NCBI36 chr21: 35,838,039-40,287,135 , GRCh38 chr21: 35,543,872-39,993,338 TTC3, LOC105372802, 96 more genes
    nsv3898082copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,008,307-19,988,832 , NCBI36 chr1: 15,880,894-19,861,419 , GRCh38 chr1: 15,681,812-19,662,339 ESPNP, CROCC, 114 more genes
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