A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558912



Internal ID15999635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52305944..52394228hg38UCSC Ensembl
Innerchr12:52699728..52788012hg19UCSC Ensembl
Innerchr12:50985995..51074279hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3888285
hg1988285
hg1888285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2630n54
Supporting Variantsnssv795979
Samples
Known GenesKRT82, KRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558912
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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