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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6484253copy number variation1nstd223human GRCh38 chr12: 111,364,438-111,364,691 , GRCh37.p13 chr12: 111,802,242-111,802,495 PHETA1
    nsv4833940copy number variation1nstd200human GRCh37 chr12: 111,796,164-111,796,858 , GRCh38.p12 chr12: 111,358,360-111,359,054 PHETA1
    esv3424323copy number variation1estd59human NCBI36 chr12: 110,283,272-110,283,458 , GRCh37.p13 chr12: 111,798,889-111,799,075 , GRCh38.p12 chr12: 111,361,085-111,361,271 PHETA1
    nsv516920copy number variation3nstd21human NCBI35 chr12: 110,261,273-110,263,303 , GRCh37.p13 chr12: 111,798,553-111,800,583 , GRCh38.p12 chr12: 111,360,749-111,362,779 PHETA1
    esv1782250copy number variation1estd22human NCBI36 chr12: 110,287,947-110,287,948 , GRCh37.p13 chr12: 111,803,564-111,803,565 , GRCh38.p12 chr12: 111,365,760-111,365,761 PHETA1
    esv2515988insertion1estd197human NCBI36 chr12: 110,283,907-110,283,907 , GRCh37.p13 chr12: 111,799,524-111,799,524 , GRCh38.p12 chr12: 111,361,720-111,361,720 PHETA1
    esv1987260insertion1estd194human NCBI36 chr12: 110,283,908-110,283,908 , GRCh37.p13 chr12: 111,799,525-111,799,525 , GRCh38.p12 chr12: 111,361,721-111,361,721 PHETA1
    nsv1666835short tandem repeat7nstd128human GRCh37 chr12: 111,802,568-111,802,583 , GRCh38.p12 chr12: 111,364,764-111,364,779 PHETA1
    nsv1664347short tandem repeat6nstd128human GRCh37 chr12: 111,802,151-111,802,165 , GRCh38.p12 chr12: 111,364,347-111,364,361 PHETA1
    esv3809461complex chromosomal rearrangement1estd192human GRCh37 chr12: 111,802,400-111,802,420 , GRCh37 chr8: 95,371,246-95,371,266 , GRCh38.p12 chr12: 111,364,596-111,364,616 , GRCh38.p12 chr8: 94,359,018-94,359,038 PHETA1
    nsv899520copy number variation1nstd71human NCBI36 chr12: 110,277,935-110,357,550 , GRCh37.p13 chr12: 111,793,552-111,873,167 , GRCh38.p12 chr12: 111,355,748-111,435,363 SH2B3, HSPA8P14, 2 more genes
    nsv3961283insertion1nstd168human GRCh38 chr12: 111,304,991-111,366,166 , GRCh37.p13 chr12: 111,742,795-111,803,970 CUX2, PHETA1, 2 more genes
    nsv6291583copy number variation1nstd102humanPathogenic GRCh37 chr12: 104,230,462-111,984,801 , GRCh38.p12 chr12: 103,836,684-111,546,997 LOC105369964, LOC644746, 147 more genes
    nsv3916234copy number variation1nstd102humanPathogenic NCBI36 chr12: 104,152,585-111,116,873 , GRCh37 chr12: 105,628,455-112,632,490 , GRCh38 chr12: 105,234,677-112,194,686 LOC100287944, PWP1, 141 more genes
    nsv4728881copy number variation1nstd102humanPathogenic GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102 ATP2A2, CUX2, 115 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
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