A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560051



Internal ID16000774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104698435..104716776hg38UCSC Ensembl
Innerchr12:105092213..105110554hg19UCSC Ensembl
Innerchr12:103616343..103634684hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3818342
hg1918342
hg1818342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176428
SamplesHGDP00588
Known GenesCHST11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560051
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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