A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013229



Internal ID76493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79637826..79637888hg38UCSC Ensembl
chr8:80550061..80550123hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474561
Supporting Variants
Samples
Known GenesSTMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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