A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559923



Internal ID16347332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98890087..98931090hg38UCSC Ensembl
Innerchr12:99283865..99324868hg19UCSC Ensembl
Innerchr12:97807996..97848999hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3841004
hg1941004
hg1841004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2817n54
Supporting Variantsnssv801301
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559923
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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