A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801654



Internal ID15748924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99896817..99897919hg38UCSC Ensembl
Innerchr12:100290595..100291697hg19UCSC Ensembl
Innerchr12:98814726..98815828hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381103
hg191103
hg181103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559992
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)nssv801654
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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