A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560386



Internal ID16001109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117384382..117553742hg38UCSC Ensembl
Innerchr12:117822187..117991547hg19UCSC Ensembl
Innerchr12:116306570..116475930hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38169361
hg19169361
hg18169361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803305
Samples
Known GenesKSR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560386
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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