A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910397



Internal ID7701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30322527..30325517hg38UCSC Ensembl
chr2:30545393..30548383hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg382991
hg192991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443833
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910397
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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