A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558930



Internal ID16346339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52452147..52469948hg38UCSC Ensembl
Innerchr12:52845931..52863732hg19UCSC Ensembl
Innerchr12:51132198..51149999hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3817802
hg1917802
hg1817802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2633n54
Supporting Variantsnssv796001
Samples
Known GenesKRT6C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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