A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558932



Internal ID16346341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52452750..52470991hg38UCSC Ensembl
Innerchr12:52846534..52864775hg19UCSC Ensembl
Innerchr12:51132801..51151042hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3818242
hg1918242
hg1818242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2633n54
Supporting Variantsnssv796003
Samples
Known GenesKRT6C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558932
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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