A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176313



Internal ID15875990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:82250383..82321431hg38UCSC Ensembl
Innerchr12:82644162..82715210hg19UCSC Ensembl
Innerchr12:81168293..81239341hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3871049
hg1971049
hg1871049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559540
Supporting Variants
SamplesHGDP00770
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176313
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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