A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563117



Internal ID16350526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110307697..110310684hg38UCSC Ensembl
Innerchr13:110960044..110963031hg19UCSC Ensembl
Innerchr13:109758045..109761032hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382988
hg192988
hg182988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv819751
Samples
Known GenesCOL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563117
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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