A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910431



Internal ID7725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30674921..30679148hg38UCSC Ensembl
chr2:30897787..30902014hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg384228
hg194228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439765
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910431
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer