A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563110



Internal ID16350519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110307341..110308269hg38UCSC Ensembl
Innerchr13:110959688..110960616hg19UCSC Ensembl
Innerchr13:109757689..109758617hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38929
hg19929
hg18929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3392n54
Supporting Variantsnssv819743
Samples
Known GenesCOL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563110
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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