A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484318



Internal ID261731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70073927..70075939hg38UCSC Ensembl
chr8:70986162..70988174hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012017
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484318
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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