A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563123



Internal ID16003846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110584913..110639697hg38UCSC Ensembl
Innerchr13:111237260..111292044hg19UCSC Ensembl
Innerchr13:110035261..110090045hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3854785
hg1954785
hg1854785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv819758
Samples
Known GenesCARKD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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