A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016104



Internal ID78383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:96310015..96310414hg38UCSC Ensembl
chr8:97322243..97322642hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481857
Supporting Variants
Samples
Known GenesPTDSS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016104
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001562


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