A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998853



Internal ID18811703
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 StatusM
Merged Variantsdgv3747n100
Supporting Variantsnssv3579148
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)nsv998853
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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