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
    nsv3904162copy number variation1nstd102humanPathogenic GRCh38 chrX: 10,001-156,030,895 , GRCh37 chrX: 60,001-155,260,560 , NCBI36 chrX: 1-154,913,754 TFE3, 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 TFE3, 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 TFE3, GPR119, 2153 more genes
    nsv3878553copy number variation2nstd102humanPathogenic GRCh37 chrX: 60,262-155,245,765 , GRCh38.p12 chrX: 10,262-156,016,100 TFE3, 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 TFE3, OR3B1P, 2154 more genes
    nsv3877395copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,839 , GRCh38.p12 chrX: 21,267-156,026,174 TFE3, ARMCX2, 2154 more genes
    nsv3884935copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,792 , GRCh38.p12 chrX: 21,267-156,026,127 TFE3, 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 TFE3, SLC38A5, 2152 more genes
    nsv3885865copy number variation1nstd102humanPathogenic GRCh37 chrX: 70,297-155,246,585 , GRCh38.p12 chrX: 20,297-156,016,920 TFE3, MIR1277, 2152 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 TFE3, LOC105373176, 2151 more genes
    nsv3907545copy number variation1nstd102humanPathogenic GRCh37 chrX: 64,245-155,228,958 , NCBI36 chrX: 4,245-154,882,152 , GRCh38 chrX: 14,245-155,999,293 TFE3, TMEM30BP1, 2151 more genes
    nsv3884029copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,224,766 , GRCh38.p12 chrX: 21,267-155,995,101 TFE3, SSX4B, 2150 more genes
    nsv3898185copy number variation2nstd102humanPathogenic GRCh37 chrX: 76,102-155,226,096 , NCBI36 chrX: 16,102-154,879,290 , GRCh38 chrX: 26,102-155,996,431 TFE3, ANKRD11P2, 2151 more genes
    nsv3891981copy number variation1nstd102humanPathogenic GRCh38 chrX: 10,701-155,978,689 , NCBI36 chrX: 701-154,861,548 , GRCh37 chrX: 60,701-155,208,354 TFE3, PAICSP7, 2149 more genes
    nsv3892026copy number variation1nstd102humanPathogenic GRCh38 chrX: 40,904-155,998,166 , GRCh37 chrX: 90,904-155,227,831 , NCBI36 chrX: 30,904-154,881,025 TFE3, MIR934, 2151 more genes
    nsv3903163copy number variation2nstd102humanPathogenic GRCh37 chrX: 168,546-155,233,731 , GRCh38 chrX: 251,879-156,004,066 , NCBI36 chrX: 108,546-154,886,925 TFE3, RPL36A, 2151 more genes
    nsv3887722copy number variation4nstd102humanPathogenic GRCh37 chrX: 168,546-155,233,731 , GRCh38.p12 chrX: 251,879-156,004,066 TFE3, CT45A3, 2151 more genes
    nsv3901047copy number variation3nstd102humanPathogenic, conflicting data from submitters GRCh38 chrX: 251,880-156,004,066 , GRCh37 chrX: 168,547-155,233,731 , NCBI36 chrX: 108,547-154,886,925 TFE3, GPR119, 2151 more genes
    nsv3890023copy number variation2nstd102humanPathogenic GRCh37 chrX: 70,140-154,929,279 , NCBI36 chrX: 10,140-154,582,473 , GRCh38 chrX: 20,140-155,699,618 TFE3, MIRLET7F2, 2145 more genes
    nsv3885965copy number variation1nstd102humanPathogenic GRCh37 chrX: 181,779-155,171,702 , GRCh38.p12 chrX: 265,112-155,942,038 TFE3, ZFYVE9P1, 2148 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