A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439329



Internal ID217868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40356416..40433181hg38UCSC Ensembl
chr3:40397907..40474672hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3876766
hg1976766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730148
Samples
Known GenesENTPD3, ENTPD3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439329
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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