A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009889



Internal ID74239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23439634..23443900hg38UCSC Ensembl
chr8:23297147..23301413hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384267
hg194267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480515
Supporting Variants
Samples
Known GenesENTPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009889
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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