A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563108



Internal ID16350517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110307182..110308596hg38UCSC Ensembl
Innerchr13:110959529..110960943hg19UCSC Ensembl
Innerchr13:109757530..109758944hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381415
hg191415
hg181415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3393n54
Supporting Variantsnssv819740, nssv819741
Samples
Known GenesCOL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563108
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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