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Items: 1 to 20 of 271

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096876copy number variation1nstd102humanUncertain significance GRCh37 chr2: 46,525,051-46,851,366 , GRCh38.p12 chr2: 46,297,912-46,624,227 TMEM247, CRIPT, 8 more genes
    nsv7096653copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,121,051-47,710,088 , GRCh38.p12 chr2: 37,893,908-47,482,949 PLEKHH2, RNU6-566P, 151 more genes
    nsv7039759inversion1nstd229human GRCh38 chr2: 39,986,388-47,339,194 , GRCh37.p13 chr2: 40,213,528-47,566,333 RPL36AP14, CRIPT, 105 more genes
    nsv6671921copy number variation1nstd229human GRCh38 chr2: 46,310,701-46,704,700 , GRCh37.p13 chr2: 46,537,840-46,931,839 SOCS5, LINC02583, 10 more genes
    nsv6671368copy number variation1nstd229human GRCh38 chr2: 46,271,601-46,316,500 , GRCh37.p13 chr2: 46,498,740-46,543,639 LOC101926974, EPAS1
    nsv6671350copy number variation1nstd229human GRCh38 chr2: 46,362,952-46,362,980 , GRCh37.p13 chr2: 46,590,091-46,590,119 EPAS1
    nsv6671144copy number variation1nstd229human GRCh38 chr2: 46,382,599-46,384,504 , GRCh37.p13 chr2: 46,609,738-46,611,643 EPAS1
    nsv6670386copy number variation1nstd229human GRCh38 chr2: 46,227,501-46,316,700 , GRCh37.p13 chr2: 46,454,640-46,543,839 LOC105374581, RPL36AP14, 2 more genes
    nsv6668911copy number variation1nstd229human GRCh38 chr2: 46,296,601-46,303,200 , GRCh37.p13 chr2: 46,523,740-46,530,339 EPAS1
    nsv6668635copy number variation1nstd229human GRCh38 chr2: 46,303,132-46,303,283 , GRCh37.p13 chr2: 46,530,271-46,530,422 EPAS1
    nsv6667521copy number variation1nstd229human GRCh38 chr2: 46,350,295-46,350,611 , GRCh37.p13 chr2: 46,577,434-46,577,750 EPAS1
    nsv6660935copy number variation1nstd229human GRCh38 chr2: 46,379,332-46,379,383 , GRCh37.p13 chr2: 46,606,471-46,606,522 EPAS1
    nsv6658505copy number variation1nstd229human GRCh38 chr2: 46,316,108-46,316,957 , GRCh37.p13 chr2: 46,543,247-46,544,096 EPAS1
    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
    nsv6348854copy number variation1nstd223human GRCh38 chr2: 46,318,775-46,319,120 , GRCh37.p13 chr2: 46,545,914-46,546,259 EPAS1
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6306801insertion1nstd186human GRCh37 chr2: 46,548,581-46,548,581 , GRCh38.p12 chr2: 46,321,442-46,321,442 EPAS1
    nsv6299653copy number variation1nstd186human GRCh37 chr2: 46,606,471-46,606,522 , GRCh38.p12 chr2: 46,379,332-46,379,383 EPAS1
    nsv6295831copy number variation1nstd186human GRCh37 chr2: 46,598,621-46,598,716 , GRCh38.p12 chr2: 46,371,482-46,371,577 EPAS1
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