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Items: 1 to 20 of 338

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5448739copy number variation1nstd206human GRCh38 chr1: 247,661,000-248,560,600 , GRCh37.p13 chr1: 247,824,302-248,723,901 OR14A2, OR2AJ1, 49 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4904628copy number variation1nstd200human GRCh38 chr1: 247,906,731-248,623,796 , GRCh37.p13 chr1: 248,070,033-248,787,097 OR2T6, OR2M5, 38 more genes
    nsv4891882copy number variation1nstd200human GRCh38 chr1: 248,305,640-248,605,229 , GRCh37.p13 chr1: 248,468,942-248,768,530 OR2T29, OR2T2, 15 more genes
    nsv4788176copy number variation1nstd200human GRCh37 chr1: 248,464,437-248,490,929 , GRCh38.p12 chr1: 248,301,135-248,327,627 OR2M7
    nsv4785805copy number variation1nstd200human GRCh37 chr1: 248,468,942-248,768,530 , GRCh38.p12 chr1|NT_187646.1: 1-162,213 , GRCh38.p12 chr1: 248,305,640-248,605,229 , GRCh38.p12 chr1|NT_187518.1: 1-165,835 OR2AS2P, LOC105373277, 15 more genes
    nsv4728429copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 246,853,199-249,181,899 , GRCh38.p12 chr1: 246,689,897-248,887,700 ZNF124, TRIM58, 105 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4679697copy number variation1nstd189human GRCh37.p13 chr1: 248,316,003-248,636,016 , GRCh38.p12 chr1: 248,152,701-248,472,715 OR2M4, OR2T1, 13 more genes
    nsv4679558copy number variation1nstd189human GRCh37.p13 chr1: 248,065,820-248,845,226 , GRCh38.p12 chr1: 247,902,518-248,681,925 OR2M4, OR2L2, 42 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4581045copy number variation2nstd183human GRCh37 chr1: 248,050,808-248,830,958 , GRCh38.p12 chr1: 247,887,506-248,667,657 OR2T6, OR2T2, 42 more genes
    nsv4580935copy number variation2nstd183human GRCh37 chr1: 248,337,712-248,660,552 , GRCh38.p12 chr1: 248,174,410-248,497,251 LOC105373277, OR2AS2P, 15 more genes
    nsv4455005copy number variation1nstd102humanPathogenic GRCh37 chr1: 238,669,293-249,224,684 , GRCh38.p12 chr1: 238,505,993-248,930,485 ZNF731P, RNU6-947P, 212 more genes
    nsv4453906copy number variation1nstd102humanPathogenic GRCh37 chr1: 235,582,580-249,224,684 , GRCh38.p12 chr1: 235,419,265-248,930,485 YWHAQP9, LOC107985747, 268 more genes
    nsv4453436copy number variation1nstd102humanPathogenic GRCh37 chr1: 246,565,044-249,224,684 , GRCh38.p12 chr1: 246,401,742-248,930,485 LOC105373273, OR6F1, 113 more genes
    nsv4451356copy number variation1nstd102humanPathogenic GRCh37 chr1: 244,379,481-249,224,684 , GRCh38.p12 chr1: 244,216,179-248,930,485 RPL35AP6, LOC107985747, 140 more genes
    nsv4450593copy number variation1nstd102humanUncertain significance GRCh37 chr1: 247,576,587-248,688,602 , GRCh38.p12 chr1: 247,413,285-248,525,301 OR2T4, OR2T7, 57 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4436033copy number variation1nstd102humanUncertain significance GRCh37 chr1: 247,846,701-248,592,414 , GRCh38.p12 chr1: 247,683,399-248,429,113 OR2M1P, OR2T8, 37 more genes
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