A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010092



Internal ID74368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27689789..27689849hg38UCSC Ensembl
chr8:27547306..27547366hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490598
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010092
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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