A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018507



Internal ID79978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122879019..122879093hg38UCSC Ensembl
chr8:123891258..123891332hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491489
Supporting Variants
Samples
Known GenesZHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018507
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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