U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 1 to 20 of 113

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6312576copy number variation2nstd102humanUncertain significance GRCh37 chr6: 35,277,427-35,289,187 , GRCh38.p12 chr6: 35,309,650-35,321,410 DEF6
    nsv3912033copy number variation1nstd102humanBenign NCBI36 chr8: 6,717,927-6,782,480 , GRCh37 chr8: 6,730,517-6,795,070 , GRCh38 chr8: 6,872,995-6,937,548 DEFA6, RPL23AP96, 2 more genes
    nsv3875198copy number variation1nstd102humanLikely benign GRCh37 chr6: 35,285,720-35,434,273 , GRCh38.p12 chr6: 35,317,943-35,466,496 DEF6, MKRN6P, 3 more genes
    nsv6315449copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,048-30,187,456 , GRCh38.p12 chr8: 208,048-30,329,940 LOC101928016, RPL23AP54, 568 more genes
    nsv3917350copy number variation2nstd102humanPathogenic GRCh37 chr8: 2,292,235-27,361,796 , GRCh38 chr8: 2,475,295-27,504,279 , NCBI36 chr8: 2,121,457-27,417,713 LINC03022, RPS3AP31, 472 more genes
    nsv7148253copy number variation1nstd102humanPathogenic GRCh38 chr8: 449,893-23,854,904 , GRCh37.p13 chr8: 399,893-23,712,417 ENTPD4, LOC100421446, 447 more genes
    nsv6636968copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,049-18,936,715 , GRCh38.p12 chr8: 208,049-19,079,205 ZNF705B, NATP, 357 more genes
    nsv4455719copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,048-14,214,722 , GRCh38.p12 chr8: 208,048-14,357,213 MIR598, RPL19P13, 312 more genes
    nsv4685988copy number variation1nstd102humanPathogenic GRCh37 chr8: 161,516-11,516,619 , GRCh38.p12 chr8: 211,516-11,659,110 ZNF705B, RNU6-682P, 232 more genes
    nsv7148131copy number variation1nstd102humanPathogenic GRCh37 chr8: 10,501-11,142,629 , GRCh38.p12 chr8: 60,501-11,285,120 XKR6, FAM90A11, 224 more genes
    nsv6634376copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,048-11,281,408 , GRCh38.p12 chr8: 208,048-11,423,899 DLGAP2-AS1, MIR124-1HG, 228 more genes
    nsv6636940copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,049-10,965,627 , GRCh38.p12 chr8|NW_018654717.1: 1-5,513,617 , GRCh38.p12 chr8: 208,049-11,108,117 HSPD1P3, LOC401442, 270 more genes
    nsv3902717copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,048-10,939,681 , GRCh38.p12 chr8: 208,048-11,082,171 , GRCh38.p12 chr8|NW_018654717.1: 1-5,513,617 LOC101929128, DEFB105B, 270 more genes
    nsv3921576copy number variation1nstd102humanPathogenic GRCh37 chr8: 191,530-10,724,642 , GRCh38 chr8: 241,530-10,867,132 , NCBI36 chr8: 181,530-10,762,052 SPAG11B, MIR4286, 213 more genes
    nsv3900231copy number variation1nstd102humanPathogenic GRCh37 chr8: 10,213-10,197,718 , GRCh38.p12 chr8|NW_018654717.1: 1-5,513,617 , GRCh38.p12 chr8: 60,213-10,340,208 LOC105377793, LOC112268400, 273 more genes
    nsv3911012copy number variation1nstd102humanPathogenic GRCh37 chr8: 191,530-10,315,994 , GRCh38 chr8: 241,530-10,458,484 , NCBI36 chr8: 181,530-10,353,404 DEFB4A, DEFA7P, 197 more genes
    nsv3912676copy number variation1nstd102humanPathogenic GRCh38 chr8: 241,530-10,191,595 , NCBI36 chr8: 181,530-10,086,515 , GRCh37 chr8: 191,530-10,049,105 FAM90A23, SNRPCP6, 196 more genes
    nsv3900485copy number variation1nstd102humanPathogenic GRCh37 chr8: 164,984-10,007,227 , GRCh38.p12 chr8: 214,984-10,149,717 RNA5SP251, DEFA5, 197 more genes
    nsv3903778copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,048-9,749,574 , GRCh38.p12 chr8: 208,048-9,892,064 LOC105379230, XKR5, 193 more genes
    nsv4455124copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,048-9,393,052 , GRCh38.p12 chr8: 208,048-9,535,542 CSMD1, LOC105377784, 191 more genes
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Find related data

    Search details

    See more...

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center