A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801469



Internal ID15748739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99496462..99657225hg38UCSC Ensembl
Innerchr12:99890240..100051003hg19UCSC Ensembl
Innerchr12:98414371..98575134hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38160764
hg19160764
hg18160764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559954
Supporting Variants
Samples
Known GenesANKS1B, FAM71C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801469
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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