A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011892



Internal ID75595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68271618..68391909hg38UCSC Ensembl
chr8:69183853..69304144hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38120292
hg19120292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481260
Supporting Variants
Samples
Known GenesC8orf34, LOC286189
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011892
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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