A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3576631



Internal ID18528226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53992912..54487416hg38UCSC Ensembl
Innerchr2:54220049..54714553hg19UCSC Ensembl
Innerchr2:54073553..54568057hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38494505
hg19494505
hg18494505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011790
Supporting Variants
Samples
Known GenesACYP2, C2orf73, SPTBN1, TSPYL6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3576631
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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