A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559954



Internal ID16000677
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 StatusM
Merged Variants
Supporting Variantsnssv801469
Samples
Known GenesANKS1B, FAM71C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559954
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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