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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099231copy number variation1nstd231human GRCh38.p12 chr1: 149,962,894-151,006,586 , GRCh37 chr1: 149,934,818-150,979,062 ARNT, CTSK, 48 more genes
    nsv7095319copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,039,915-150,464,158 , GRCh38.p12 chr1: 150,067,858-150,491,682 MIR6878, C1orf54, 15 more genes
    nsv7056211inversion1nstd229human GRCh38 chr1: 143,881,700-152,159,818 , GRCh37.p13 chr1|NW_003871055.3: 697,113-7,283,150 , PDIA3P1, 333 more genes
    nsv6642094copy number variation1nstd229human GRCh38 chr1: 150,235,570-150,329,435 , GRCh37.p13 chr1|NW_003871055.3: 7,050,983-7,144,848 , GRCh37.p13 chr1: 150,207,918-150,301,904 C1orf54, CA14, 8 more genes
    nsv6539665inversion1nstd223human GRCh38 chr1: 150,274,665-150,275,209 , GRCh37.p13 chr1|NW_003871055.3: 7,090,078-7,090,622 , GRCh37.p13 chr1: 150,247,070-150,247,617 APH1A, C1orf54
    nsv6332627copy number variation1nstd223human GRCh38 chr1: 150,270,807-150,297,111 , GRCh37.p13 chr1: 150,243,208-150,269,534 , GRCh37.p13 chr1|NW_003871055.3: 7,086,220-7,112,524 CIART, MRPS21, 3 more genes
    nsv6310679copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,044,213-150,477,474 , GRCh38.p12 chr1: 150,072,146-150,504,998 TARS2, LINC02988, 15 more genes
    nsv6310678copy number variation4nstd102humanUncertain significance GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642 PRPF3, KHDC4, 352 more genes
    nsv6133733copy number variation1nstd213human GRCh37 chr1: 149,980,000-151,620,001 , GRCh38.p12 chr1: 150,008,051-151,647,525 CTSK, MCL1, 80 more genes
    nsv6133732copy number variation1nstd213human GRCh37 chr1: 149,750,000-153,310,001 , GRCh38.p12 chr1: 149,778,444-153,337,525 , CTSK, 183 more genes
    nsv6133499copy number variation1nstd213human GRCh37 chr1: 149,880,000-153,720,001 , GRCh38.p12 chr1: 149,908,448-153,747,525 , CTSK, 198 more genes
    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
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4716373copy number variation1nstd195human GRCh37 chr1: 150,000,001-150,452,951 , GRCh38.p12 chr1: 150,028,043-150,480,475 , CA14, 15 more genes
    nsv4378584copy number variation1nstd173human GRCh37 chr1: 149,981,338-150,286,562 , GRCh38.p12 chr1: 150,009,389-150,314,126 , APH1A, 14 more genes
    nsv4064579copy number variation1nstd166human GRCh37.p13 chr1: 150,162,000-150,293,000 , GRCh38.p12 chr1: 150,189,740-150,320,552 PRPF3, CIART, 9 more genes
    nsv4057681copy number variation1nstd166human GRCh37.p13 chr1: 150,244,482-150,247,211 , GRCh38.p12 chr1: 150,272,079-150,274,806 C1orf54, APH1A
    nsv4055238copy number variation1nstd166human GRCh37.p13 chr1: 150,245,000-150,250,000 , GRCh38.p12 chr1: 150,272,597-150,277,590 APH1A, C1orf54
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
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