A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558904



Internal ID15999627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52325089hg38UCSC Ensembl
Innerchr12:52691103..52718873hg19UCSC Ensembl
Innerchr12:50977370..51005140hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3827771
hg1927771
hg1827771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795971
Samples
Known GenesKRT83, KRT86
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558904
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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