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 27

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6291526copy number variation1nstd102humanUncertain significance GRCh37 chr17: 33,312,303-33,365,515 , GRCh38.p12 chr17: 34,985,284-35,038,496 LIG3, OSTCP7, 2 more genes
    nsv3911302copy number variation1nstd102humanPathogenic GRCh38 chr12: 57,013,355-63,042,498 , NCBI36 chr12: 55,693,406-61,722,545 , GRCh37 chr12: 57,407,139-63,436,278 CTDSP2, LINC01465, 97 more genes
    nsv7137216copy number variation1nstd102humanPathogenic GRCh37 chr17: 30,572,862-35,843,988 , GRCh38.p12 chr17: 32,245,843-36,446,544 LIG3, PSMD11, 117 more genes
    nsv3910298copy number variation1nstd102humanPathogenic GRCh37 chr12: 57,434,942-60,667,715 , GRCh38 chr12: 57,041,158-60,273,934 , NCBI36 chr12: 55,721,209-58,953,982 MARS1, LRIG3, 72 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 RNA5SP369, ST13P22, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 LOH12CR2, OR8S21P, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 RNU4ATAC16P, PIGAP1, 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 BTG1P1, LOC105370073, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 OR5BT1P, RECQL, 2441 more genes
    nsv3903684copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004 LIG3, MIR3185, 2366 more genes
    nsv3899740copy number variation1nstd102humanPathogenic GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564 LIG3, P4HB, 2366 more genes
    nsv3906245copy number variation1nstd102humanPathogenic GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251 LIG3, MIR21, 2366 more genes
    nsv3907261copy number variation2nstd102humanPathogenic GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062 LIG3, SMURF2, 2366 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LIG3, LOC105371922, 1855 more genes
    nsv4457831copy number variation1nstd102humanPathogenic GRCh37 chr17: 21,690,653-38,772,647 , GRCh38.p12 chr17: 22,164,047-40,616,395 LIG3, LOC105371753, 474 more genes
    nsv4675143copy number variation1nstd102humanPathogenic GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523 OR6C71P, METTL1, 183 more genes
    nsv7098889copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 57,064,059-59,314,016 , GRCh38.p12 chr12: 56,670,275-58,920,235 CDK4, CYP27B1, 77 more genes
    nsv3897392copy number variation1nstd102humanLikely benign GRCh37 chr12: 59,167,152-60,244,566 , GRCh38.p12 chr12: 58,773,370-59,850,785 LRIG3, RNU6-279P, 10 more genes
    nsv3906311copy number variation1nstd102humanUncertain significance GRCh37 chr12: 59,148,987-59,769,685 , GRCh38.p12 chr12: 58,755,205-59,375,904 LRIG3, LINC02388, 5 more genes
    nsv3911135copy number variation1nstd102humanUncertain significance NCBI36 chr12: 57,453,419-58,050,475 , GRCh37 chr12: 59,167,152-59,764,208 , GRCh38 chr12: 58,773,370-59,370,427 METTL15P2, RPS6P22, 5 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