A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018334



Internal ID79856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138313722..138313722hg38UCSC Ensembl
chr8:139325965..139325965hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395326
Supporting Variants
Samples
Known GenesFAM135B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.733423


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