A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560517



Internal ID16001240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911486..123912269hg38UCSC Ensembl
Innerchr12:124396033..124396816hg19UCSC Ensembl
Innerchr12:122961986..122962769hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38784
hg19784
hg18784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2931n54
Supporting Variantsnssv803820, nssv803819
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560517
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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