A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008298



Internal ID73164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11554109..11554160hg38UCSC Ensembl
chr8:11411618..11411669hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557420
Supporting Variants
Samples
Known GenesBLK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008298
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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