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Items: 1 to 20 of 155

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112661copy number variation1nstd102humanPathogenic GRCh37 chr1: 231,407,943-237,289,859 , GRCh38.p12 chr1: 231,272,197-237,126,559 LOC105373207, LOC105373210, 113 more genes
    nsv5538563insertion1nstd206human GRCh38 chr1: 235,360,077-235,360,100 , GRCh37.p13 chr1: 235,523,392-235,523,415 LOC100418822
    nsv5436781copy number variation1nstd206human GRCh38 chr1: 235,348,461-235,365,109 , GRCh37.p13 chr1: 235,511,776-235,528,424 LOC100418822
    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
    nsv5206094copy number variation1nstd204human GRCh37.p13 chr1: 235,457,716-235,628,717 , GRCh38.p13 chr1: 235,294,401-235,465,400 TBCE, GGPS1, 5 more genes
    nsv4904482copy number variation1nstd200human GRCh38 chr1: 235,336,243-235,360,743 , GRCh37.p13 chr1: 235,499,558-235,524,058 LOC100418822, GGPS1
    nsv4904481copy number variation1nstd200human GRCh38 chr1: 235,299,364-235,543,512 , GRCh37.p13 chr1: 235,462,679-235,706,812 TBCE, MTND3P8, 11 more genes
    nsv4904480copy number variation1nstd200human GRCh38 chr1: 235,265,066-235,483,567 , GRCh37.p13 chr1: 235,428,381-235,646,883 GGPS1, B3GALNT2, 5 more genes
    nsv4904478copy number variation1nstd200human GRCh38 chr1: 235,213,978-235,562,202 , GRCh37.p13 chr1: 235,377,293-235,725,502 LOC100418822, MTND4LP21, 13 more genes
    nsv4904477copy number variation1nstd200human GRCh38 chr1: 235,201,748-235,616,955 , GRCh37.p13 chr1: 235,365,063-235,780,255 B3GALNT2, MTCO3P46, 14 more genes
    nsv4781518copy number variation1nstd200human GRCh37 chr1: 235,428,381-235,646,883 , GRCh38.p12 chr1: 235,265,066-235,483,567 , GRCh38.p12 chr1|NW_014040927.1: 1-127,159 ARID4B, TBCE, 5 more genes
    nsv4781516copy number variation1nstd200human GRCh37 chr1: 235,365,063-235,780,255 , GRCh38.p12 chr1: 235,201,748-235,616,955 , GRCh38.p12 chr1|NW_014040927.1: 1-212,205 ARID4B, MTND4LP21, 14 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
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674170copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,832,737-240,993,877 , GRCh38.p12 chr1: 228,696,990-240,830,577 LOC105373224, NUP133-DT, 208 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
    nsv4674008copy number variation1nstd102humanPathogenic GRCh37 chr1: 233,843,930-237,971,511 , GRCh38.p12 chr1: 233,708,184-237,808,211 LGALS8-AS1, MTND6P14, 75 more genes
    nsv4580791copy number variation1nstd183human GRCh37 chr1: 235,359,782-235,601,305 , GRCh38.p12 chr1: 235,196,467-235,437,990 TBCE, GGPS1, 4 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
    nsv4450507copy number variation1nstd102humanUncertain significance GRCh37 chr1: 235,347,794-235,749,391 , GRCh38.p12 chr1: 235,184,479-235,586,091 , GRCh38.p12 chr1|NW_014040927.1: 1-212,205 MTND3P8, MTCYBP14, 14 more genes
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