A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694179



Internal ID117845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110637251..110638376hg38UCSC Ensembl
chr13:111289598..111290723hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497988
Supporting Variants
Samples
Known GenesCARKD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694179
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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