A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560510



Internal ID16001233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911435..123912207hg38UCSC Ensembl
Innerchr12:124395982..124396754hg19UCSC Ensembl
Innerchr12:122961935..122962707hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38773
hg19773
hg18773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2929n54
Supporting Variantsnssv803732, nssv803731
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560510
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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