A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009673



Internal ID74096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40224300..40226924hg38UCSC Ensembl
chr8:40081819..40084443hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382625
hg192625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484864
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009673
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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