A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558911



Internal ID15999634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52298689..52388357hg38UCSC Ensembl
Innerchr12:52692473..52782141hg19UCSC Ensembl
Innerchr12:50978740..51068408hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3889669
hg1989669
hg1889669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2630n54
Supporting Variantsnssv1176309
SamplesNINDS_116
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)nsv558911
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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