A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730148



Internal ID153814
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 StatusS
Merged Variantsnsv5439329
Supporting Variants
Samples
Known GenesENTPD3, ENTPD3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730148
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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