A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559424



Internal ID16346833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76206451..76240243hg38UCSC Ensembl
Innerchr12:76600231..76634023hg19UCSC Ensembl
Innerchr12:75124370..75158138hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3833793
hg1933793
hg1833769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798867
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559424
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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