A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693224



Internal ID116890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77929559..77935458hg38UCSC Ensembl
chr13:78503694..78509593hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502062
Supporting Variants
Samples
Known GenesEDNRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693224
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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