A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559944



Internal ID16000667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401714..99408086hg38UCSC Ensembl
Innerchr12:99795492..99801864hg19UCSC Ensembl
Innerchr12:98319623..98325995hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386373
hg196373
hg186373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2822n54
Supporting Variantsnssv801448
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559944
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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