A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731731



Internal ID155397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25121452..25367703hg38UCSC Ensembl
chr20:25102088..25348339hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38246252
hg19246252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530717
Supporting Variants
Samples
Known GenesABHD12, ENTPD6, LOC284798, PYGB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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