A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559843



Internal ID16000566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96194111..96195063hg38UCSC Ensembl
Innerchr12:96587889..96588841hg19UCSC Ensembl
Innerchr12:95112020..95112972hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38953
hg19953
hg18953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2806n54
Supporting Variantsnssv800856, nssv800857
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559843
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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