A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563121



Internal ID16350530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110503016..110516141hg38UCSC Ensembl
Innerchr13:111155363..111168488hg19UCSC Ensembl
Innerchr13:109953364..109966489hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3813126
hg1913126
hg1813126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv819756
Samples
Known GenesCOL4A2, COL4A2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563121
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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