A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176426



Internal ID15530628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:102163421..102233833hg38UCSC Ensembl
Innerchr12:102557199..102627611hg19UCSC Ensembl
Innerchr12:101081329..101151741hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3870413
hg1970413
hg1870413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560033
Supporting Variants
SamplesHGDP00966
Known GenesPARPBP, PMCH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176426
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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