A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007430



Internal ID72595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12873372..12873548hg38UCSC Ensembl
chr8:12730881..12731057hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475315
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007430
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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