A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv785863



Internal ID15733133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:511600..512877hg38UCSC Ensembl
Innerchr12:620766..622043hg19UCSC Ensembl
Innerchr12:491027..492304hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381278
hg191278
hg181278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556879
Supporting Variants
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv785863
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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