A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559932



Internal ID16000655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98894695..98895498hg38UCSC Ensembl
Innerchr12:99288473..99289276hg19UCSC Ensembl
Innerchr12:97812604..97813407hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38804
hg19804
hg18804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2819n54
Supporting Variantsnssv801336, nssv801335, nssv801334
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559932
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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