A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018331



Internal ID79853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138280349..138280415hg38UCSC Ensembl
chr8:139292592..139292658hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485171
Supporting Variants
Samples
Known GenesFAM135B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018331
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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