A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558933



Internal ID15999656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52514689..52548578hg38UCSC Ensembl
Innerchr12:52908473..52942362hg19UCSC Ensembl
Innerchr12:51194740..51228629hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3833890
hg1933890
hg1833890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796004
Samples
Known GenesKRT5, KRT71
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558933
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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