A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563112



Internal ID16350521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110307341..110308442hg38UCSC Ensembl
Innerchr13:110959688..110960789hg19UCSC Ensembl
Innerchr13:109757689..109758790hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381102
hg191102
hg181102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3392n54
Supporting Variantsnssv819746
Samples
Known GenesCOL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563112
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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