A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502062



Internal ID278940
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 StatusM
Merged Variants
Supporting Variantsnssv17693224
Samples
Known GenesEDNRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502062
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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