A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913415



Internal ID9692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54458097..54458148hg38UCSC Ensembl
chr2:54685234..54685285hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403824
Supporting Variants
Samples
Known GenesSPTBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913415
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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