A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015314



Internal ID77862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117920283..117920330hg38UCSC Ensembl
chr8:118932522..118932569hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543833
Supporting Variants
Samples
Known GenesEXT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00203


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