A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706762



Internal ID130428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2331189..2331371hg38UCSC Ensembl
chr16:2381190..2381372hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524415
Supporting Variants
Samples
Known GenesABCA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706762
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