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Items: 1 to 20 of 36787

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137806copy number variation1nstd102humanUncertain significance GRCh37 chr3: 196,539,700-196,612,739 , GRCh38.p12 chr3: 196,812,829-196,885,868 SENP5, PAK2
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6137727copy number variation2nstd102humanUncertain significance GRCh38 chr3: 12,589,035-12,766,981 , GRCh37.p13 chr3: 12,630,534-12,808,480 RAF1, CRIP1P1, 1 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
    nsv6137713insertion1nstd102humanUncertain significance GRCh37 chr18: 48,581,368-48,581,368 , GRCh38 chr18: 51,054,998-51,054,998 SMAD4
    nsv6131470insertion1nstd186human GRCh37 chr19: 41,849,848-41,849,872 , GRCh38.p12 chr19: 41,343,943-41,343,967 TGFB1
    nsv6131306insertion1nstd186human GRCh37 chr20: 35,698,248-35,698,248 , GRCh38.p12 chr20: 37,069,845-37,069,845 RBL1
    nsv6131281insertion1nstd186human GRCh37 chr22: 31,622,461-31,622,461 , GRCh38.p12 chr22: 31,226,475-31,226,475 LIMK2
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6130706insertion1nstd186human GRCh37 chr21: 27,352,122-27,352,185 , GRCh38.p12 chr21: 25,979,809-25,979,872 APP
    nsv6130112insertion1nstd186human GRCh37 chr21: 27,252,394-27,252,438 , GRCh38.p12 chr21: 25,880,083-25,880,127 APP
    nsv6129526insertion1nstd186human GRCh37 chr17: 67,487,296-67,487,311 , GRCh38.p12 chr17: 69,491,155-69,491,170 MAP2K6
    nsv6129435insertion1nstd186human GRCh37 chr17: 79,650,667-79,650,704 , GRCh38.p12 chr17: 81,683,637-81,683,674 HGS, ARL16
    nsv6128755copy number variation1nstd186human GRCh37 chr18: 48,167,690-48,167,776 , GRCh38.p12 chr18: 50,641,320-50,641,406 MAPK4
    nsv6128516copy number variation1nstd186human GRCh37 chr19: 18,387,525-18,388,622 , GRCh38.p12 chr19: 18,276,715-18,277,812 JUND
    nsv6126741copy number variation1nstd186human GRCh37 chr22: 39,819,771-39,819,994 , GRCh38.p12 chr22: 39,423,766-39,423,989 TAB1
    nsv6126600copy number variation1nstd186human GRCh37 chr18: 44,382,723-44,383,059 , GRCh38.p12 chr18: 46,802,760-46,803,096 PIAS2
    nsv6124828insertion1nstd186human GRCh37 chr8: 141,960,170-141,960,193 , GRCh38.p12 chr8: 140,950,071-140,950,094 PTK2
    nsv6122244copy number variation1nstd186human GRCh37 chr13: 114,291,042-114,291,097 , GRCh38.p12 chr13: 113,636,727-113,636,782 TFDP1
    nsv6122154copy number variation1nstd186human GRCh37 chr15: 67,404,495-67,405,594 , GRCh38.p12 chr15: 67,112,157-67,113,256 SMAD3
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