A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560055



Internal ID16347464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106240944..106247932hg38UCSC Ensembl
Innerchr12:106634722..106641710hg19UCSC Ensembl
Innerchr12:105158852..105165840hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386989
hg196989
hg186989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801811
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560055
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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