A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698623



Internal ID15088589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135007030..135008076hg38UCSC Ensembl
Innerchr5:134342720..134343766hg19UCSC Ensembl
Innerchr5:134370619..134371665hg18UCSC Ensembl
Innerchr5:134370619..134371665hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381047
hg191047
hg181047
hg171047
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)nssv698623
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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