A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563107



Internal ID16350516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110307182..110308162hg38UCSC Ensembl
Innerchr13:110959529..110960509hg19UCSC Ensembl
Innerchr13:109757530..109758510hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38981
hg19981
hg18981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3392n54
Supporting Variantsnssv819738, nssv819739
Samples
Known GenesCOL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563107
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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