A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560519



Internal ID16001242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911486..123914458hg38UCSC Ensembl
Innerchr12:124396033..124399005hg19UCSC Ensembl
Innerchr12:122961986..122964958hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382973
hg192973
hg182973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2932n54
Supporting Variantsnssv803828
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560519
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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