A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911637



Internal ID8524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43079628..43080911hg38UCSC Ensembl
chr2:43306766..43308049hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381284
hg191284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451571
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911637
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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