A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480515



Internal ID258022
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 StatusM
Merged Variants
Supporting Variantsnssv17009889
Samples
Known GenesENTPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480515
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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