A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482986



Internal ID260429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42717204..42729312hg38UCSC Ensembl
chr8:42572347..42584455hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3812109
hg1912109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009811
Samples
Known GenesCHRNB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482986
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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