A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909421



Internal ID7065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10482176..10482227hg38UCSC Ensembl
chr2:10622302..10622353hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396571
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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