A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563104



Internal ID16003827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110299140..110307908hg38UCSC Ensembl
Innerchr13:110951487..110960255hg19UCSC Ensembl
Innerchr13:109749488..109758256hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388769
hg198769
hg188769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv819734
Samples
Known GenesCOL4A1, COL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563104
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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