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Items: 13

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    Number of Variants: 13

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMPD1, AMYP1, 320 more genes
    nsv7095696copy number variation1nstd102humanPathogenic GRCh37 chr1: 112,318,699-115,576,848 , GRCh38.p12 chr1: 111,776,077-115,034,227 AMPD1, AKR7A2P1, 69 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 AMPD1, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 AMPD1, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 AMPD1, RNU1-153P, 4887 more genes
    nsv3882464copy number variation1nstd102humanPathogenic GRCh37 chr1: 93,837,992-121,343,783 , GRCh38.p12 chr1: 93,372,435-121,601,985 AMPD1, LINC02607, 513 more genes
    nsv3890331copy number variation1nstd102humanPathogenic NCBI36 chr1: 104,669,629-120,321,801 , GRCh37 chr1: 104,868,106-120,471,049 , GRCh38 chr1: 104,325,484-119,977,655 AMPD1, OR11I1P, 324 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 AMPD1, GAPDHP23, 243 more genes
    nsv3898188copy number variation1nstd102humanPathogenic NCBI36 chr1: 110,100,775-118,994,350 , GRCh38 chr1: 109,756,630-118,650,204 , GRCh37 chr1: 110,299,252-119,192,827 AMPD1, AP4B1-AS1, 198 more genes
    nsv4673999copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 114,024,461-116,189,135 , GRCh38.p12 chr1: 113,481,839-115,646,514 AMPD1, NGF, 43 more genes
    nsv6636396copy number variation1nstd102humanUncertain significance GRCh37 chr1: 114,833,697-115,377,089 , GRCh38.p12 chr1: 114,291,075-114,834,468 AMPD1, NR1H5P, 13 more genes
    nsv3898742copy number variation1nstd102humanUncertain significance GRCh37 chr1: 115,041,949-115,469,044 , GRCh38 chr1: 114,499,327-114,926,423 , NCBI36 chr1: 114,843,472-115,270,567 AMPD1, TRIM33, 12 more genes
    nsv7095740copy number variation1nstd102humanUncertain significance GRCh37 chr1: 113,456,513-116,311,162 , GRCh38.p12 chr1: 112,913,891-115,768,541 AMPD1, TRIM33, 55 more genes
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