A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709094



Internal ID132760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66431180..66431231hg38UCSC Ensembl
chr16:66465083..66465134hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418715
Supporting Variants
Samples
Known GenesBEAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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