A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039934



Internal ID19129153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72949549..73121811hg38UCSC Ensembl
Innerchr12:73343329..73515591hg19UCSC Ensembl
Innerchr12:71629596..71801858hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38172263
hg19172263
hg18172263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524620
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)nsv1039934
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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