A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488692



Internal ID265992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80125390..80131197hg38UCSC Ensembl
chr8:81037625..81043432hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg385808
hg195808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013331
Samples
Known GenesTPD52
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488692
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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