A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007435



Internal ID72597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12911949..12912041hg38UCSC Ensembl
chr8:12769458..12769550hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488555
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007435
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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