A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919388



Internal ID13706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139327654..139335946hg38UCSC Ensembl
chr2:140085224..140093516hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg388293
hg198293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452460
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919388
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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