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Items: 1 to 20 of 138

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv7096164copy number variation2nstd102humanUncertain significance GRCh37 chr2: 45,169,244-45,236,249 , GRCh38.p12 chr2: 44,942,105-45,009,110 KRTCAP2P1, SIX3-AS1, 2 more genes
    nsv7055642inversion1nstd229human GRCh38 chr2: 44,685,745-45,171,910 , GRCh37.p13 chr2: 44,912,884-45,399,049 SIX3, SIX3-AS1, 6 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
    nsv6675622copy number variation1nstd229human GRCh38 chr2: 44,989,102-45,124,533 , GRCh37.p13 chr2: 45,216,241-45,351,672 LOC107985809, KRTCAP2P1, 1 more genes
    nsv6670681copy number variation1nstd229human GRCh38 chr2: 44,888,501-45,027,500 , GRCh37.p13 chr2: 45,115,640-45,254,639 SIX2, KRTCAP2P1, 3 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
    nsv6628126copy number variation1nstd224human GRCh37 chr2: 45,217,280-45,346,666 , GRCh38.p12 chr2: 44,990,141-45,119,527 SIX2, LOC107985809, 1 more genes
    nsv6628125copy number variation1nstd224human GRCh37 chr2: 44,957,915-46,282,786 , GRCh38.p12 chr2: 44,730,776-46,055,647 LOC102724965, LOC105374573, 16 more genes
    nsv6627934copy number variation1nstd224human GRCh37 chr2: 45,212,258-45,346,666 , GRCh38.p12 chr2: 44,985,119-45,119,527 KRTCAP2P1, SIX2, 1 more genes
    nsv6339100copy number variation1nstd223human GRCh38 chr2: 44,981,862-45,081,745 , GRCh37.p13 chr2: 45,209,001-45,308,884 SIX2, KRTCAP2P1
    nsv6338181copy number variation1nstd223human GRCh38 chr2: 45,007,701-45,010,100 , GRCh37.p13 chr2: 45,234,840-45,237,239 SIX2
    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
    nsv6290552copy number variation1nstd102humanUncertain significance GRCh37 chr2: 45,194,853-45,370,709 , GRCh38.p12 chr2: 44,967,714-45,143,570 KRTCAP2P1, SIX2, 1 more genes
    nsv6134459copy number variation1nstd213human GRCh37 chr2: 40,080,000-50,820,001 , GRCh38.p12 chr2: 39,852,860-50,592,863 , BCYRN1, 149 more genes
    nsv6134458copy number variation2nstd213human GRCh37 chr2: 38,440,000-47,670,001 , GRCh38.p12 chr2: 38,212,858-47,442,862 ASS1P2, BCYRN1, 144 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5876164copy number variation1nstd209human GRCh38 chr2: 45,007,947-45,008,001 , GRCh37.p13 chr2: 45,235,086-45,235,140 SIX2
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes

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