A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175904



Internal ID15526849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132813412..132886923hg38UCSC Ensembl
Innerchr12:133389998..133463509hg19UCSC Ensembl
Innerchr12:131900071..131973582hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3873512
hg1973512
hg1873512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561134
Supporting Variants
SamplesHGDP00232
Known GenesCHFR, GOLGA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175904
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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