A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563105



Internal ID16350514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110307009..110308024hg38UCSC Ensembl
Innerchr13:110959356..110960371hg19UCSC Ensembl
Innerchr13:109757357..109758372hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381016
hg191016
hg181016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv819736, nssv819735
Samples
Known GenesCOL4A1, COL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563105
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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