A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911332



Internal ID8322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28419773..28423033hg38UCSC Ensembl
chr2:28642640..28645900hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383261
hg193261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437612
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911332
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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