A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563118



Internal ID16350527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110385456..110385977hg38UCSC Ensembl
Innerchr13:111037803..111038324hg19UCSC Ensembl
Innerchr13:109835804..109836325hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38522
hg19522
hg18522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3395n54
Supporting Variantsnssv819753, nssv819752
Samples
Known GenesCOL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563118
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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