A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175756



Internal ID15532211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5413390..6141521hg38UCSC Ensembl
Innerchr12:5522556..6250687hg19UCSC Ensembl
Innerchr12:5392817..6120948hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38728132
hg19728132
hg18728132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557155
Supporting Variants
SamplesHGDP01276
Known GenesANO2, NTF3, VWF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175756
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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