A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801478



Internal ID15748748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99861479..99918617hg38UCSC Ensembl
Innerchr12:100255257..100312395hg19UCSC Ensembl
Innerchr12:98779388..98836526hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3857139
hg1957139
hg1857139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559963
Supporting Variants
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801478
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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