A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716549



Internal ID140215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21675330..21676409hg38UCSC Ensembl
chr18:19255291..19256370hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524613
Supporting Variants
Samples
Known GenesABHD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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