A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176320



Internal ID15875783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83620580..83680696hg38UCSC Ensembl
Innerchr12:84014359..84074475hg19UCSC Ensembl
Innerchr12:82538490..82598606hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3860117
hg1960117
hg1860117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559562
Supporting Variants
SamplesHGDP00736
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176320
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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