A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497988



Internal ID275000
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 StatusM
Merged Variants
Supporting Variantsnssv17694179
Samples
Known GenesCARKD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497988
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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