A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729222



Internal ID18680817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126707071..127198967hg38UCSC Ensembl
Innerchr2:127464647..127956543hg19UCSC Ensembl
Innerchr2:127181117..127673013hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38491897
hg19491897
hg18491897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999422
Supporting Variants
Samples
Known GenesBIN1, CYP27C1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729222
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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