A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917522



Internal ID12428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96499882..96499927hg38UCSC Ensembl
chr2:97165619..97165664hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403954
Supporting Variants
Samples
Known GenesNEURL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.016859


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