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Items: 1 to 20 of 82

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6315034copy number variation2nstd102humanPathogenic GRCh37 chr3: 185,231,236-185,236,525 , GRCh38 chr3: 185,513,448-185,518,737 LIPH
    nsv6315035copy number variation1nstd102humanPathogenic GRCh37 chr3: 185,252,600-185,252,601 , GRCh38 chr3: 185,534,812-185,534,813 LIPH
    nsv3896536copy number variation1nstd102humanUncertain significance GRCh37 chr15: 58,800,140-58,863,464 , GRCh38.p12 chr15: 58,507,941-58,571,265 LIPC
    nsv6309735copy number variation1nstd102humanUncertain significance GRCh37 chr15: 58,724,232-58,724,339 , GRCh38.p12 chr15: 58,432,033-58,432,140 LIPC
    nsv6291750copy number variation1nstd102humanLikely benign GRCh37 chr15: 58,756,554-58,863,464 , GRCh38.p12 chr15: 58,464,355-58,571,265 LIPC, LIPC-AS1
    nsv3890959copy number variation1nstd102humanBenign GRCh37 chr15: 58,642,461-58,743,709 , GRCh38.p12 chr15: 58,350,262-58,451,510 LIPC, LIPC-AS1
    nsv4456872copy number variation1nstd102humanUncertain significance GRCh37 chr15: 58,511,251-58,797,110 , GRCh38.p12 chr15: 58,219,052-58,504,911 LIPC, LIPC-AS1
    nsv3914684copy number variation1nstd102humanUncertain significance NCBI36 chr15: 56,307,215-56,544,106 , GRCh37 chr15: 58,519,923-58,756,814 , GRCh38 chr15: 58,227,724-58,464,615 LIPC, LIPC-AS1
    nsv4455464copy number variation1nstd102humanUncertain significance GRCh37 chr15: 58,646,985-58,746,830 , GRCh38.p12 chr15: 58,354,786-58,454,631 LIPC, LIPC-AS1
    nsv4728792copy number variation1nstd102humanLikely benign GRCh37 chr15: 58,759,710-58,879,262 , GRCh38.p12 chr15: 58,467,511-58,587,063 ADAM10, LIPC, 1 more genes
    nsv4728851copy number variation1nstd102humanUncertain significance GRCh37 chr15: 58,461,372-58,897,874 , GRCh38.p12 chr15: 58,169,173-58,605,675 LIPC, AQP9, 3 more genes
    nsv3911549copy number variation1nstd102humanPathogenic NCBI36 chr3: 186,706,753-187,178,365 , GRCh37 chr3: 185,224,059-185,695,671 , GRCh38 chr3: 185,506,271-185,977,882 LIPH, TRA2B, 6 more genes
    nsv3916249copy number variation1nstd102humanPathogenic NCBI36 chr15: 21,173,967-100,338,915 , GRCh37.p13 chr15: 23,622,526-102,521,392 , GRCh38.p12 chr15: 23,377,379-101,981,189 H3P40, EEF1B2P1, 1616 more genes
    nsv3919468copy number variation1nstd102humanPathogenic NCBI36 chr15: 26,996,912-100,338,915 , GRCh37.p13 chr15: 29,209,620-102,521,392 , GRCh38.p12 chr15: 28,917,417-101,981,189 RNU6-18P, GOLGA8K, 1442 more genes
    nsv3915488copy number variation1nstd102humanPathogenic GRCh37 chr3: 185,203,637-197,837,049 , NCBI36 chr3: 186,686,331-199,321,446 , GRCh38 chr3: 185,485,849-198,110,178 LIPH, SNAR-I, 260 more genes
    nsv3914166copy number variation1nstd102humanPathogenic GRCh37 chr3: 180,856,452-192,229,812 , GRCh38 chr3: 181,138,664-192,512,023 , NCBI36 chr3: 182,339,146-193,712,506 LIPH, SNORA4, 199 more genes
    nsv3913164copy number variation1nstd102humanPathogenic GRCh38 chr15: 50,864,913-59,646,577 , GRCh37 chr15: 51,157,110-59,938,776 , NCBI36 chr15: 48,944,402-57,726,068 LOC112268148, MTND4LP23, 131 more genes
    nsv3882335copy number variation1nstd102humanPathogenic GRCh37 chr3: 182,650,681-191,275,809 , GRCh38.p12 chr3: 182,932,893-191,558,020 LIPH, VPS8, 171 more genes
    nsv3899878copy number variation1nstd102humanPathogenic GRCh37 chr15: 54,713,558-62,769,295 , GRCh38.p12 chr15: 54,421,360-62,477,096 RAB27A, RNF111, 120 more genes
    nsv3921425copy number variation1nstd102humanPathogenic NCBI36 chr15: 55,647,440-61,098,667 , GRCh37 chr15: 57,860,148-63,311,614 , GRCh38 chr15: 57,567,950-63,019,415 MESTP2, HMGB1P51, 86 more genes
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