A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559953



Internal ID16000676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99403485..99408847hg38UCSC Ensembl
Innerchr12:99797263..99802625hg19UCSC Ensembl
Innerchr12:98321394..98326756hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385363
hg195363
hg185363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801466, nssv801467, nssv801468
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559953
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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