A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683289



Internal ID15073255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135007030..135012266hg38UCSC Ensembl
Innerchr5:134342720..134347956hg19UCSC Ensembl
Innerchr5:134370619..134375855hg18UCSC Ensembl
Innerchr5:134370619..134375855hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg385237
hg195237
hg185237
hg175237
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519879
Supporting Variants
Samples
Known GenesCATSPER3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683289
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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