A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531243



Internal ID307204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82069175..82464363hg38UCSC Ensembl
chr16:82102780..82497968hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38395189
hg19395189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709889
Samples
Known GenesHSD17B2, MPHOSPH6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer