A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558928



Internal ID15999651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52401803..52437285hg38UCSC Ensembl
Innerchr12:52795587..52831069hg19UCSC Ensembl
Innerchr12:51081854..51117336hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3835483
hg1935483
hg1835483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795999
Samples
Known GenesKRT75, KRT82
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558928
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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