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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099225copy number variation1nstd231human GRCh38.p12 chr1: 111,381,594-114,553,029 , GRCh37 chr1: 111,924,216-115,095,650 ADORA3, RHOC, 74 more genes
    nsv7095740copy number variation1nstd102humanUncertain significance GRCh37 chr1: 113,456,513-116,311,162 , GRCh38.p12 chr1: 112,913,891-115,768,541 TRIM33, PHTF1, 55 more genes
    nsv7095696copy number variation1nstd102humanPathogenic GRCh37 chr1: 112,318,699-115,576,848 , GRCh38.p12 chr1: 111,776,077-115,034,227 AKR7A2P1, PTPN22, 69 more genes
    nsv7095695copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,145,905-114,454,813 , GRCh38.p12 chr1: 110,603,283-113,912,191 LOC107985189, RNU6-792P, 83 more genes
    nsv7043013inversion1nstd229human GRCh38 chr1: 113,253,872-114,283,476 , GRCh37.p13 chr1: 113,796,494-114,826,098 DCLRE1B, LOC107985443, 16 more genes
    nsv7039033inversion1nstd229human GRCh38 chr1: 113,396,540-116,450,790 , GRCh37.p13 chr1: 113,939,162-116,993,412 ELOCP20, NHLH2, 60 more genes
    nsv6640170copy number variation1nstd229human GRCh38 chr1: 113,880,391-113,882,410 , GRCh37.p13 chr1: 114,423,013-114,425,032 BCL2L15, AP4B1-AS1
    nsv6549317inversion1nstd223human GRCh38 chr1: 111,078,274-116,976,218 , GRCh37.p13 chr1: 111,620,896-117,518,840 RNU6-792P, TXNP3, 141 more genes
    nsv6541190inversion1nstd223human GRCh38 chr1: 113,885,175-113,885,756 , GRCh37.p13 chr1: 114,427,797-114,428,378 AP4B1-AS1, BCL2L15
    nsv6313675copy number variation1nstd102humanPathogenic GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309 LINC01307, FTLP17, 320 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6299084copy number variation1nstd186human GRCh37 chr1: 112,230,457-115,692,621 , GRCh38.p12 chr1: 111,687,835-115,150,000 , WNT2B, 77 more genes
    nsv6133918copy number variation1nstd213human GRCh37 chr1: 112,970,000-114,990,001 , GRCh38.p12 chr1: 112,427,378-114,447,379 MOV10, LRIG2, 46 more genes
    nsv5429360copy number variation1nstd206human GRCh38 chr1: 111,687,835-115,150,000 , GRCh37.p13 chr1: 112,230,457-115,692,621 , ST7L, 77 more genes
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5173309mobile element insertion1nstd203human GRCh38 chr1: 113,877,129-113,877,145 , GRCh37.p13 chr1: 114,419,751-114,419,767 BCL2L15, AP4B1-AS1
    nsv4773746copy number variation1nstd200human GRCh37 chr1: 114,427,860-114,428,173 , GRCh38.p12 chr1: 113,885,238-113,885,551 BCL2L15, AP4B1-AS1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
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