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Items: 1 to 20 of 962

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7144991insertion1nstd232human GRCh37.p13 chr11: 642,745-642,745 , GRCh38.p12 chr11: 642,745-642,745 , GRCh38.p12 chr11|NT_187586.1: 172,614-172,614 DEAF1
    nsv7094098copy number variation1nstd102humanPathogenic GRCh37 chr11: 674,516-674,803 , GRCh38.p12 chr11: 674,516-674,803 , GRCh38.p12 chr11|NT_187586.1: 206,441-206,728 DEAF1
    nsv7094089copy number variation2nstd102humanUncertain significance GRCh37 chr11: 532,636-554,276 , GRCh38.p12 chr11: 532,636-554,276 , GRCh38.p12 chr11|NT_187586.1: 62,277-83,916 LRRC56, LMNTD2, 1 more genes
    nsv7093934copy number variation1nstd102humanUncertain significance GRCh37 chr11: 653,942-654,071 , GRCh38.p12 chr11: 653,942-654,071 , GRCh38.p12 chr11|NT_187586.1: 185,698-185,827 DEAF1
    nsv7093693copy number variation1nstd102humanUncertain significance GRCh37 chr11: 532,636-819,925 , GRCh38.p12 chr11: 532,636-819,925 , GRCh38.p12 chr11|NT_187586.1: 62,277-209,248 HRAS, LRRC56, 25 more genes
    nsv6314602complex chromosomal rearrangement9nstd102humanPathogenic GRCh38.p12 chr: NaN-NaN , GRCh37 chr11: 628,154-628,154 , GRCh37 chr11: 46,010,192-46,010,192 , GRCh37 chr11: 46,010,194-46,010,194 , GRCh37 chr11: 628,154-628,154 , GRCh37 chr11: 196,401-196,401 , GRCh37 chr11: 196,401-196,401 , GRCh37 chr13: 71,736,082-71,736,082 , GRCh37 chr13: 71,736,081-71,736,081 , GRCh37 chr17: 18,161,151-18,161,151 , GRCh37 chr17: 18,161,153-18,161,153 , GRCh37 chr17: 36,205,410-36,205,410 , GRCh37 chr18: 10,362,350-10,362,350 , GRCh37 chr18: 1-1 , GRCh37 chr18: 10,362,350-10,362,350 , GRCh37 chr21: 39,353,931-39,353,931 , GRCh37 chr21: 16,138,062-16,138,062 , GRCh37 chr21: 16,138,064-16,138,064 , GRCh37 chr21: 39,353,931-39,353,931 , GRCh38.p12 chr11: 196,401-196,401 , GRCh38.p12 chr11: 628,154-628,154 , GRCh38.p12 chr11: 196,401-196,401 , GRCh38.p12 chr11: 628,154-628,154 , GRCh38.p12 chr11: 45,988,641-45,988,641 , GRCh38.p12 chr11: 45,988,643-45,988,643 , GRCh38.p12 chr17: 18,257,837-18,257,837 , GRCh38.p12 chr17: 37,845,786-37,845,786 , GRCh38.p12 chr17: 18,257,839-18,257,839 , GRCh38.p12 chr18: 10,362,353-10,362,353 , GRCh38.p12 chr18: 10,362,353-10,362,353 , GRCh38.p12 chr21: 37,981,629-37,981,629 , GRCh38.p12 chr21: 14,765,741-14,765,741 , GRCh38.p12 chr21: 14,765,743-14,765,743 , GRCh38.p12 chr21: 37,981,629-37,981,629 , GRCh38.p12 chr17|NW_017363819.1: 18,211-18,211 , GRCh38.p12 chr17|NW_017363819.1: 18,213-18,213 , GRCh38.p12 chr13: 71,161,950-71,161,950 , GRCh38.p12 chr13: 71,161,949-71,161,949 , GRCh38.p12 chr11|NT_187586.1: 158,053-158,053 , GRCh38.p12 chr11|NT_187586.1: 158,053-158,053 , GRCh38.p12 chr17|NT_187614.1: 2,084,475-2,084,475 FLII, SCT, 5 more genes
    nsv6309369copy number variation1nstd102humanUncertain significance GRCh37 chr11: 533,443-534,322 , GRCh38.p12 chr11|NT_187586.1: 63,084-63,963 , GRCh38.p12 chr11: 533,443-534,322 HRAS, LRRC56
    nsv6309368copy number variation1nstd102humanUncertain significance GRCh37 chr11: 532,636-533,328 , GRCh38.p12 chr11: 532,636-533,328 , GRCh38.p12 chr11|NT_187586.1: 62,277-62,969 HRAS, LRRC56
    nsv6309203copy number variation1nstd102humanUncertain significance GRCh37 chr11: 612,645-644,674 , GRCh38.p12 chr11: 612,645-644,674 , GRCh38.p12 chr11|NT_187586.1: 142,538-176,554 SCT, IRF7, 4 more genes
    nsv6309115copy number variation1nstd102humanUncertain significance GRCh37 chr11: 532,636-695,047 , GRCh38.p12 chr11: 532,636-695,047 , GRCh38.p12 chr11|NT_187586.1: 62,277-209,248 LOC143666, DEAF1, 13 more genes
    nsv6301912copy number variation1nstd186human GRCh37 chr11: 631,779-632,287 , GRCh38.p12 chr11: 631,779-632,287 , GRCh38.p12 chr11|NT_187586.1: 161,652-162,160 0
    nsv6300888copy number variation1nstd186human GRCh37 chr11: 489,982-490,034 , GRCh38.p12 chr11: 489,982-490,034 , GRCh38.p12 chr11|NT_187586.1: 19,623-19,675 PTDSS2
    nsv6137846copy number variation1nstd102humanUncertain significance GRCh37 chr11: 528,484-534,377 , GRCh38.p12 chr11: 528,484-534,377 , GRCh38.p12 chr11|NT_187586.1: 58,125-64,018 LRRC56, HRAS
    nsv5564369copy number variation1nstd102humanUncertain significance GRCh37 chr11: 532,636-533,622 , GRCh38.p12 chr11: 532,636-533,622 , GRCh38.p12 chr11|NT_187586.1: 62,277-63,263 LRRC56, HRAS
    nsv5393105copy number variation1nstd186human GRCh37 chr11: 631,900-632,287 , GRCh38.p12 chr11: 631,900-632,287 , GRCh38.p12 chr11|NT_187586.1: 161,773-162,160 0
    nsv5392797copy number variation1nstd186human GRCh37 chr11: 631,688-632,032 , GRCh38.p12 chr11: 631,688-632,032 , GRCh38.p12 chr11|NT_187586.1: 161,561-161,905 0
    nsv5392591copy number variation1nstd186human GRCh37 chr11: 491,672-491,873 , GRCh38.p12 chr11|NT_187586.1: 21,313-21,514 , GRCh38.p12 chr11: 491,672-491,873 PTDSS2
    nsv5392495copy number variation1nstd186human GRCh37 chr11: 474,954-475,541 , GRCh38.p12 chr11|NT_187586.1: 4,595-5,182 , GRCh38.p12 chr11: 474,954-475,541 PTDSS2
    nsv5392466copy number variation1nstd186human GRCh37 chr11: 631,847-632,161 , GRCh38.p12 chr11: 631,847-632,161 , GRCh38.p12 chr11|NT_187586.1: 161,720-162,034 0
    nsv5391712copy number variation1nstd186human GRCh37 chr11: 677,176-677,451 , GRCh38.p12 chr11: 677,176-677,451 , GRCh38.p12 chr11|NT_187586.1: 209,080-209,248 DEAF1
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