U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 10

    loading data ...

    Number of Variants: 10

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3912656copy number variation1nstd102humanPathogenic NCBI36 chr12: 48,802,409-51,928,511 , GRCh37 chr12: 50,516,142-53,642,244 , GRCh38 chr12: 50,122,359-53,248,460 LETMD1, KRT86, 112 more genes
    nsv3924549copy number variation1nstd102humanPathogenic GRCh37 chr12: 51,027,671-53,245,693 , GRCh38 chr12: 50,633,888-52,851,909 , NCBI36 chr12: 49,313,938-51,531,960 LETMD1, KRT128P, 82 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 LETMD1, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 LETMD1, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 LETMD1, RNU4ATAC16P, 2452 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 LETMD1, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 LETMD1, OR5BT1P, 2441 more genes
    nsv3900504copy number variation1nstd102humanLikely benign GRCh37 chr12: 51,029,262-51,443,724 , GRCh38.p12 chr12: 50,635,479-51,049,941 LETMD1, TMPRSS12, 10 more genes
    nsv3895933copy number variation1nstd102humanUncertain significance GRCh37 chr12: 51,361,462-51,751,521 , GRCh38.p12 chr12: 50,967,679-51,357,737 LETMD1, GALNT6, 16 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 LETMD1, ASIC1, 491 more genes
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Filters: Manage Filters

    Find related data

    Search details

    See more...

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    You are here: NCBI > Variation > Database of Genomic Structural Variation (dbVar)
    Support Center