A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176333



Internal ID15874678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119917759..119958491hg38UCSC Ensembl
Innerchr12:120355563..120396295hg19UCSC Ensembl
Innerchr12:118839946..118880678hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3840733
hg1940733
hg1840733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560398
Supporting Variants
SamplesHGDP00572
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176333
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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