A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009728



Internal ID74133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41683256..41684536hg38UCSC Ensembl
chr8:41540774..41542054hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483114
Supporting Variants
Samples
Known GenesANK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009728
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001717


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