A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053931



Internal ID18796462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64990926..65152553hg38UCSC Ensembl
Innerchr12:65384706..65546333hg19UCSC Ensembl
Innerchr12:63670973..63832600hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38161628
hg19161628
hg18161628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524989
Samples
Known GenesWIF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053931
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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