A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3576639



Internal ID18874920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54248729..54268085hg38UCSC Ensembl
Innerchr2:54475866..54495222hg19UCSC Ensembl
Innerchr2:54329370..54348726hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3819357
hg1919357
hg1819357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011975
Supporting Variants
Samples
Known GenesACYP2, TSPYL6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3576639
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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