A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513972



Internal ID290477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82055491..82064586hg38UCSC Ensembl
chr16:82089096..82098191hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg389096
hg199096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709887
Samples
Known GenesHSD17B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513972
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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