A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498061



Internal ID275069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77904551..77908373hg38UCSC Ensembl
chr13:78478686..78482508hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383823
hg193823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693223
Samples
Known GenesEDNRB, EDNRB-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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