A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010269



Internal ID74478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22625879..22625879hg38UCSC Ensembl
chr8:22483392..22483392hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548297
Supporting Variants
Samples
Known GenesBIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.266555


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