A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476563



Internal ID254170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127920874..127926341hg38UCSC Ensembl
chr8:128933120..128938587hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385468
hg195468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016443
Samples
Known GenesPVT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476563
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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