A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017067



Internal ID79038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124138068..124143027hg38UCSC Ensembl
chr8:125150309..125155268hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384960
hg194960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479051
Supporting Variants
Samples
Known GenesFER1L6-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017067
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