A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729326



Internal ID18680921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196498771..196676572hg38UCSC Ensembl
Innerchr2:197363495..197541296hg19UCSC Ensembl
Innerchr2:197071740..197249541hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38177802
hg19177802
hg18177802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999398
Supporting Variants
Samples
Known GenesCCDC150, HECW2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729326
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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