A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562459



Internal ID335413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134860929..134860980hg38UCSC Ensembl
chr8:135873172..135873223hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019754
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562459
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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