A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561130



Internal ID16348539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132769585..132814368hg38UCSC Ensembl
Innerchr12:133346171..133390954hg19UCSC Ensembl
Innerchr12:131856244..131901027hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3844784
hg1944784
hg1844784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175903
SamplesHGDP01097
Known GenesGOLGA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561130
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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