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Items: 1 to 20 of 128

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096647copy number variation1nstd102humanPathogenic GRCh37 chr2: 27,534,757-27,535,986 , GRCh38.p12 chr2: 27,311,889-27,313,119 MPV17
    nsv7096627copy number variation1nstd102humanPathogenic GRCh37 chr2: 27,532,770-27,535,986 , GRCh38.p12 chr2: 27,309,902-27,313,119 MPV17
    nsv7096625copy number variation1nstd102humanUncertain significance GRCh37 chr2: 24,443,763-30,143,525 , GRCh38.p12 chr2: 24,220,894-29,920,659 LOC105374381, POMC, 136 more genes
    nsv7096492copy number variation1nstd102humanUncertain significance GRCh37 chr2: 27,532,780-27,532,869 , GRCh38.p12 chr2: 27,309,912-27,310,001 MPV17
    nsv7096148copy number variation2nstd102humanUncertain significance GRCh37 chr2: 24,443,763-29,022,169 , GRCh38.p12 chr2: 24,220,894-28,799,303 LOC105374381, SLC35F6, 122 more genes
    nsv7046929inversion1nstd229human GRCh38 chr2: 27,161,080-28,820,407 , GRCh37.p13 chr2: 27,383,948-29,043,273 LOC100422227, PLB1, 54 more genes
    nsv7042984inversion1nstd229human GRCh38 chr2: 26,886,657-32,818,427 , GRCh37.p13 chr2: 27,109,525-33,043,494 CLIP4, LOC102723594, 118 more genes
    nsv6672785copy number variation1nstd229human GRCh38 chr2: 24,384,939-32,866,867 , GRCh37.p13 chr2: 24,607,808-33,091,934 CENPO, TOGARAM2, 170 more genes
    nsv6665106copy number variation1nstd229human GRCh38 chr2: 27,303,605-27,343,513 , GRCh37.p13 chr2: 27,526,473-27,566,380 TRIM54, GTF3C2, 3 more genes
    nsv6636815copy number variation1nstd102humanPathogenic GRCh37 chr2: 706,460-35,523,639 , GRCh38.p12 chr2: 706,460-35,298,573 LOC105374455, RN7SL674P, 504 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6546927inversion1nstd223human GRCh38 chr2: 26,476,473-32,916,584 , GRCh37.p13 chr2: 26,699,341-33,141,651 LOC105374453, LCLAT1, 129 more genes
    nsv6543735inversion1nstd223human GRCh38 chr2: 24,403,241-32,916,237 , GRCh37.p13 chr2: 24,626,110-33,141,304 LOC105374334, LOC107985861, 172 more genes
    nsv6538559inversion1nstd223human GRCh38 chr2: 25,762,333-32,867,002 , GRCh37.p13 chr2: 25,985,202-33,092,069 MIR558, PCARE, 148 more genes
    nsv6344534copy number variation1nstd223human GRCh38 chr2: 24,831,925-32,916,230 , GRCh37.p13 chr2: 25,054,794-33,141,297 LOC102723594, DNAJC5G, 165 more genes
    nsv6341421copy number variation1nstd223human GRCh38 chr2: 27,306,702-27,310,488 , GRCh37.p13 chr2: 27,529,570-27,533,356 MPV17, TRIM54, 1 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    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
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5988634copy number variation1nstd212human GRCh38 chr2: 27,320,082-27,320,166 , GRCh37.p13 chr2: 27,542,949-27,543,033 MPV17
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