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 286

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6311310copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr22: 17,684,433-17,690,567 , GRCh38.p12 chr22: 17,203,543-17,209,677 ADA2
    nsv3871425copy number variation1nstd102humanPathogenic GRCh38 chr22: 17,188,319-17,188,467 , GRCh37 chr22: 17,669,209-17,669,357 ADA2
    nsv7093390copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,669,229-17,669,337 , GRCh38.p12 chr22: 17,188,339-17,188,447 ADA2
    nsv4685666copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 17,687,819-17,690,721 , GRCh38 chr22: 17,206,929-17,209,831 ADA2
    nsv3900391copy number variation1nstd102humanBenign GRCh37 chr22: 17,698,173-17,721,595 , GRCh38.p12 chr22: 17,217,283-17,240,705 ADA2
    nsv3877094copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,662,353-17,663,671 , GRCh38 chr22: 17,181,463-17,182,781 ADA2
    nsv7095929copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,669,209-17,672,720 , GRCh38.p12 chr22: 17,188,319-17,191,830 ADA2, RPL32P5
    nsv7096337copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,662,373-17,672,720 , GRCh38.p12 chr22: 17,181,483-17,191,830 ADA2, RPL32P5
    nsv5564411copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,680,419-17,690,587 , GRCh38.p12 chr22: 17,199,529-17,209,697 ADA2, LOC107985573
    nsv6112819copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 17,670,832-17,680,468 , GRCh38.p12 chr22: 17,189,942-17,199,578 ADA2, RPL32P5, 1 more genes
    nsv3880723copy number variation1nstd102humanBenign GRCh37 chr4: 7,044,007-7,045,760 , GRCh38.p12 chr4: 7,042,280-7,044,033 LOC100129931, TADA2B, 1 more genes
    nsv3874931copy number variation1nstd102humanBenign GRCh37 chr4: 7,044,504-7,045,657 , GRCh38.p12 chr4: 7,042,777-7,043,930 CCDC96, TADA2B, 1 more genes
    nsv4684305copy number variation1nstd102humanUncertain significance GRCh38 chr17|NT_187614.1: 1,679,472-1,805,976 , GRCh37 chr17: 35,800,407-35,926,911 , NCBI36 chr17: 32,874,520-33,001,024 DUSP14, SYNRG, 2 more genes
    nsv6291810copy number variation1nstd102humanUncertain significance GRCh37 chr17: 35,580,576-35,818,709 , GRCh38.p12 chr17: 37,223,655-37,458,607 , GRCh38.p12 chr17|NT_187614.1: 1,459,641-1,697,774 LOC100419621, TADA2A, 3 more genes
    nsv4674843copy number variation1nstd102humanUncertain significance GRCh37 chr17: 35,588,688-35,818,634 , GRCh38.p12 chr17: 37,231,773-37,458,532 , GRCh38.p12 chr17|NT_187614.1: 1,467,753-1,697,699 ACACA, C17orf78, 3 more genes
    nsv3906135copy number variation1nstd102humanUncertain significance GRCh37 chr17: 35,588,186-35,802,087 , GRCh38.p12 chr17|NT_187614.1: 1,467,251-1,681,152 , GRCh38.p12 chr17: 37,231,271-37,441,986 C17orf78, TADA2A, 2 more genes
    nsv4457405copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,698,172-17,857,131 , GRCh38.p12 chr22: 17,217,282-17,377,187 ADA2, CECR2, 2 more genes
    nsv6311173copy number variation1nstd102humanUncertain significance GRCh37 chr22: 17,662,373-17,690,567 , GRCh38.p12 chr22: 17,181,483-17,209,677 ADA2, RPL32P5, 1 more genes
    nsv3911811copy number variation1nstd102humanPathogenic NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577 PRPSAP1, CACNG1, 1350 more genes
    nsv3877950copy number variation1nstd102humanPathogenic GRCh37 chr4: 4,165,334-33,324,781 , GRCh38.p12 chr4: 4,163,607-33,323,159 LOC100418700, OR7E84P, 353 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