A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707634



Internal ID131300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29815109..29815160hg38UCSC Ensembl
chr16:29826430..29826481hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421431
Supporting Variants
Samples
Known GenesPRRT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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