A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559933



Internal ID16000656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99042804..99399467hg38UCSC Ensembl
Innerchr12:99436582..99793245hg19UCSC Ensembl
Innerchr12:97960713..98317376hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38356664
hg19356664
hg18356664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801337
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559933
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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