A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3490889



Internal ID18731844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161312594..161439428hg38UCSC Ensembl
Innerchr1:161282384..161409218hg19UCSC Ensembl
Innerchr1:159549008..159675842hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38126835
hg19126835
hg18126835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010776
Supporting Variants
Samples
Known GenesC1orf192, SDHC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3490889
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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