A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563124



Internal ID16003847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110608920..110648596hg38UCSC Ensembl
Innerchr13:111261267..111300943hg19UCSC Ensembl
Innerchr13:110059268..110098944hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3839677
hg1939677
hg1839677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv819759
Samples
Known GenesCARKD, CARS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563124
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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