A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727317



Internal ID150984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46462776..46462826hg38UCSC Ensembl
chr21:47882689..47882739hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548976
Supporting Variants
Samples
Known GenesDIP2A, DIP2A-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727317
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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