A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559952



Internal ID16000675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99402892..99408847hg38UCSC Ensembl
Innerchr12:99796670..99802625hg19UCSC Ensembl
Innerchr12:98320801..98326756hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385956
hg195956
hg185956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2823n54
Supporting Variantsnssv801464, nssv801465
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559952
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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