A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693225



Internal ID116891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77933395..77939216hg38UCSC Ensembl
chr13:78507530..78513351hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385822
hg195822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499309
Supporting Variants
Samples
Known GenesEDNRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693225
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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