A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707624



Internal ID131290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29706486..29711500hg38UCSC Ensembl
chr16:29717807..29722821hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385015
hg195015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523190
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707624
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000158


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