A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009723



Internal ID74129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41603770..41605556hg38UCSC Ensembl
chr8:41461289..41463075hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381787
hg191787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485923
Supporting Variants
Samples
Known GenesAGPAT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009723
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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