A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480029



Internal ID257541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99023038..99028745hg38UCSC Ensembl
chr8:100035266..100040973hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg385708
hg195708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016142
Samples
Known GenesVPS13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480029
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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