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 336

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3877099copy number variation1nstd102humanLikely benign GRCh37 chrX: 1,553,947-1,612,474 , GRCh38 chrX: 1,435,054-1,493,581 ASMTL, P2RY8
    nsv3924586copy number variation1nstd102humanUncertain significance NCBI36 chrX: 1,500,778-1,597,723 , GRCh37.p13 chrX: 1,540,778-1,637,723 , GRCh38.p12 chrX: 1,421,885-1,518,830 ASMTL, P2RY8
    nsv3923131copy number variation1nstd102humanUncertain significance NCBI36 chrX: 1,521,068-1,607,334 , GRCh37.p13 chrX: 1,561,068-1,647,334 , GRCh38.p12 chrX: 1,442,175-1,528,441 ASMTL, P2RY8
    nsv3923877copy number variation1nstd102humanUncertain significance NCBI36 chrX: 1,500,778-1,585,425 , GRCh37.p13 chrX: 1,540,778-1,625,425 , GRCh38.p12 chrX: 1,421,885-1,506,532 ASMTL, P2RY8
    nsv3918994copy number variation1nstd102humanUncertain significance NCBI36 chrX: 1,498,662-1,580,182 , GRCh37.p13 chrX: 1,538,662-1,620,182 , GRCh38.p12 chrX: 1,419,769-1,501,289 ASMTL, P2RY8
    nsv3918816copy number variation1nstd102humanUncertain significance NCBI36 chrX: 1,500,778-1,580,182 , GRCh37.p13 chrX: 1,540,778-1,620,182 , GRCh38.p12 chrX: 1,421,885-1,501,289 ASMTL, P2RY8
    nsv3916425copy number variation1nstd102humanUncertain significance NCBI36 chrY: 1,500,778-1,580,182 , GRCh37.p13 chrY: 1,490,778-1,570,182 , GRCh38.p12 chrY: 1,421,885-1,501,289 ASMTL, P2RY8
    nsv3919821copy number variation1nstd102humanUncertain significance NCBI36 chrX: 1,521,068-1,597,723 , GRCh37.p13 chrX: 1,561,068-1,637,723 , GRCh38.p12 chrX: 1,442,175-1,518,830 ASMTL, P2RY8
    nsv4728250copy number variation1nstd102humanUncertain significance GRCh37 chrX: 1,519,821-1,793,059 , GRCh38.p12 chrX: 1,400,928-1,674,166 ASMTL, ASMT, 3 more genes
    nsv3912726copy number variation1nstd102humanUncertain significance NCBI36 chrX: 1,498,662-1,844,201 , GRCh37.p13 chrX: 1,538,662-1,884,201 , GRCh38.p12 chrX: 1,419,769-1,765,308 ASMTL, AKAP17A, 3 more genes
    nsv3924485copy number variation1nstd102humanUncertain significance NCBI36 chrY: 1,498,662-1,797,113 , GRCh37.p13 chrY: 1,488,662-1,787,113 , GRCh38.p12 chrY: 1,419,769-1,718,220 ASMTL, ASMT, 2 more genes
    nsv3874446copy number variation1nstd102humanUncertain significance GRCh37 chrX: 1,568,111-1,849,664 , GRCh38.p12 chrX: 1,449,218-1,730,771 ASMTL, P2RY8, 3 more genes
    nsv3904162copy number variation1nstd102humanPathogenic GRCh38 chrX: 10,001-156,030,895 , GRCh37 chrX: 60,001-155,260,560 , NCBI36 chrX: 1-154,913,754 ASMTL, NANOGNBP3, 2154 more genes
    nsv3913255copy number variation2nstd102humanPathogenic NCBI36 chrX: 701-154,913,754 , GRCh37.p13 chrX: 60,701-155,260,560 , GRCh38.p12 chrX: 10,701-156,030,895 ASMTL, NHS-AS1, 2154 more genes
    nsv3907094copy number variation4nstd102humanPathogenic GRCh38 chrX: 10,679-156,022,206 , GRCh37 chrX: 60,679-155,251,871 , NCBI36 chrX: 679-154,905,065 ASMTL, GPR119, 2153 more genes
    nsv3878553copy number variation2nstd102humanPathogenic GRCh37 chrX: 60,262-155,245,765 , GRCh38.p12 chrX: 10,262-156,016,100 ASMTL, H2AB2, 2152 more genes
    nsv3898149copy number variation1nstd102humanPathogenic GRCh38 chrX: 20,297-156,026,127 , NCBI36 chrX: 10,297-154,908,986 , GRCh37 chrX: 70,297-155,255,792 ASMTL, OR3B1P, 2154 more genes
    nsv3877395copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,839 , GRCh38.p12 chrX: 21,267-156,026,174 ASMTL, ARMCX2, 2154 more genes
    nsv3884935copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,792 , GRCh38.p12 chrX: 21,267-156,026,127 ASMTL, NDUFB11, 2154 more genes
    nsv3903061copy number variation1nstd102humanPathogenic NCBI36 chrX: 679-154,896,026 , GRCh38 chrX: 10,679-156,013,167 , GRCh37 chrX: 60,679-155,242,832 ASMTL, SLC38A5, 2152 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