A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558908



Internal ID15999631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52388357hg38UCSC Ensembl
Innerchr12:52691103..52782141hg19UCSC Ensembl
Innerchr12:50977370..51068408hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3891039
hg1991039
hg1891039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2630n54
Supporting Variantsnssv795977
Samples
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558908
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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