A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921779



Internal ID15287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165864955..165865006hg38UCSC Ensembl
chr2:166721465..166721516hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394699
Supporting Variants
Samples
Known GenesLOC100506124
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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