A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558909



Internal ID15999632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52395144hg38UCSC Ensembl
Innerchr12:52691103..52788928hg19UCSC Ensembl
Innerchr12:50977370..51075195hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3897826
hg1997826
hg1897826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2630n54
Supporting Variantsnssv1176308
Samples1782681287_A
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)nsv558909
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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