A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560531



Internal ID16001254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911640..123915714hg38UCSC Ensembl
Innerchr12:124396187..124400261hg19UCSC Ensembl
Innerchr12:122962140..122966214hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384075
hg194075
hg184075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2930n54
Supporting Variantsnssv803880
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560531
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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