A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520734



Internal ID297050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48816866..48827663hg38UCSC Ensembl
chr19:49320123..49330920hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810798
hg1910798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723919
Samples
Known GenesHSD17B14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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