A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014243



Internal ID77164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98520764..98520840hg38UCSC Ensembl
chr8:99532992..99533068hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484901
Supporting Variants
Samples
Known GenesSTK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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