A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493398



Internal ID270582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53337998..53369311hg38UCSC Ensembl
chr8:54250558..54281871hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3831314
hg1931314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011614
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493398
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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