A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912025



Internal ID8769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32121255..32121684hg38UCSC Ensembl
chr2:32346324..32346753hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453626
Supporting Variants
Samples
Known GenesSPAST
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912025
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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