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 158

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098790copy number variation1nstd102humanLikely pathogenic GRCh37 chr11: 118,971,849-118,972,786 , GRCh38.p12 chr11: 119,101,139-119,102,076 DPAGT1
    nsv7136984copy number variation1nstd102humanUncertain significance GRCh37 chr16: 46,940,888-46,965,210 , GRCh38.p12 chr16: 46,906,976-46,931,298 GPT2
    nsv6312815copy number variation1nstd102humanUncertain significance GRCh37 chr8: 145,729,802-145,737,046 , GRCh38.p12 chr8: 144,504,419-144,511,663 GPT, RECQL4, 2 more genes
    nsv3910120copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,500,741-52,456,082 , NCBI36 chr16: 45,058,242-51,013,583 , GRCh38 chr16: 46,466,829-52,422,170 CYLD-AS1, NETO2, 103 more genes
    nsv3915496copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,505,432-52,439,868 , GRCh38 chr16: 46,471,520-52,405,956 , NCBI36 chr16: 45,062,933-50,997,369 SNORD148, RN7SKP142, 102 more genes
    nsv3914752copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,500,741-51,973,216 , GRCh38 chr16: 46,466,829-51,939,304 , NCBI36 chr16: 45,058,242-50,530,717 CNEP1R1, RNU6-845P, 94 more genes
    nsv3920484copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,466,829-51,673,196 , GRCh37 chr16: 46,500,741-51,707,107 , NCBI36 chr16: 45,058,242-50,264,608 NETO2, LOC100130180, 92 more genes
    nsv3903769copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,737,110-51,838,691 , GRCh38.p12 chr16: 46,703,198-51,804,780 N4BP1, RN7SKP142, 86 more genes
    nsv4683551copy number variation9nstd102humanUncertain significance, Pathogenic GRCh37 chr11: 117,856,768-118,972,385 , GRCh38.p12 chr11: 117,986,053-119,101,675 MIR6716, TREHP1, 48 more genes
    nsv3915173copy number variation1nstd102humanPathogenic NCBI36 chr8: 3,938-146,274,826 , GRCh37.p13 chr8: 13,938-146,304,022 , GRCh38.p12 chr8: 63,938-145,078,636 GPT, RN7SL474P, 2109 more genes
    nsv3901821copy number variation1nstd102humanPathogenic GRCh37 chr8: 10,213-146,293,414 , GRCh38.p12 chr8: 60,213-145,068,028 GPT, TBC1D31, 2109 more genes
    nsv4349554copy number variation2nstd102humanPathogenic GRCh37 chr8: 158,048-146,295,771 , GRCh38.p12 chr8: 208,048-145,070,385 GPT, LOC101929488, 2105 more genes
    nsv3916777copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,048-146,295,771 , GRCh38 chr8: 208,048-145,070,385 , NCBI36 chr8: 148,048-146,266,575 GPT, RPL5P22, 2105 more genes
    nsv3898123copy number variation2nstd102humanPathogenic GRCh37 chr8: 158,049-146,295,771 , GRCh38.p12 chr8: 208,049-145,070,385 GPT, SPAG1, 2105 more genes
    nsv3908608copy number variation1nstd102humanPathogenic GRCh37 chr8: 164,984-146,293,414 , GRCh38.p12 chr8: 214,984-145,068,028 GPT, LINC01617, 2105 more genes
    nsv3893757copy number variation1nstd102humanPathogenic GRCh37 chr8: 158,991-146,280,828 , GRCh38.p12 chr8: 208,991-145,055,442 GPT, LOC105375890, 2105 more genes
    nsv3923310copy number variation1nstd102humanPathogenic NCBI36 chr8: 166,452-146,264,902 , GRCh38 chr8: 226,452-145,068,712 , GRCh37 chr8: 176,452-146,294,098 GPT, LOC112268023, 2105 more genes
    nsv3914307copy number variation1nstd102humanPathogenic GRCh37 chr8: 191,605-146,280,167 , GRCh38 chr8: 241,605-145,054,781 , NCBI36 chr8: 181,605-146,250,971 GPT, LOC107986897, 2104 more genes
    nsv3919282copy number variation1nstd102humanPathogenic GRCh37 chr8: 191,530-146,280,020 , GRCh38 chr8: 241,530-145,054,634 , NCBI36 chr8: 181,530-146,250,824 GPT, MIR4662B, 2104 more genes
    nsv3919200copy number variation1nstd102humanPathogenic GRCh38 chr8: 241,530-145,049,449 , GRCh37 chr8: 191,530-146,274,835 , NCBI36 chr8: 181,530-146,245,639 GPT, LOC112268023, 2103 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