A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018526



Internal ID79993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123180848..123192520hg38UCSC Ensembl
chr8:124193088..124204760hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3811673
hg1911673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484009
Supporting Variants
Samples
Known GenesFAM83A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018526
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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