A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014271



Internal ID77182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98912531..98917455hg38UCSC Ensembl
chr8:99924759..99929683hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg384925
hg194925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478861
Supporting Variants
Samples
Known GenesSTK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014271
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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