A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012980



Internal ID76329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70638984..70639406hg38UCSC Ensembl
chr8:71551219..71551641hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491883
Supporting Variants
Samples
Known GenesLACTB2, LOC286190
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012980
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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