A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042674



Internal ID19131893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83227120..83548849hg38UCSC Ensembl
Innerchr12:83620899..83942628hg19UCSC Ensembl
Innerchr12:82145030..82466759hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38321730
hg19321730
hg18321730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712574
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042674
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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