A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559947



Internal ID16000670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401778..99406276hg38UCSC Ensembl
Innerchr12:99795556..99800054hg19UCSC Ensembl
Innerchr12:98319687..98324185hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384499
hg194499
hg184499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2821n54
Supporting Variantsnssv801459
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559947
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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