A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008937



Internal ID73593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17490010..17737534hg38UCSC Ensembl
chr8:17347519..17595043hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38247525
hg19247525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493063
Supporting Variants
Samples
Known GenesMTUS1, PDGFRL, SLC7A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008937
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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