A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522053



Internal ID298326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89143721..89143775hg38UCSC Ensembl
chr15:89686952..89687006hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704099
Samples
Known GenesABHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522053
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