A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709128



Internal ID132794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67088940..67088991hg38UCSC Ensembl
chr16:67122843..67122894hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560270
Supporting Variants
Samples
Known GenesCBFB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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