A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv791887



Internal ID15739157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32174241..32180514hg38UCSC Ensembl
Innerchr12:32327175..32333448hg19UCSC Ensembl
Innerchr12:32218442..32224715hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg386274
hg196274
hg186274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558174
Supporting Variants
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv791887
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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