A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3579148



Internal ID18530743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31378589..31633892hg38UCSC Ensembl
Innerchr2:31601455..31858961hg19UCSC Ensembl
Innerchr2:31454959..31712465hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38255304
hg19257507
hg18257507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998853
Supporting Variants
Samples
Known GenesSRD5A2, XDH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3579148
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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