A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483299



Internal ID260738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130011927..130014536hg38UCSC Ensembl
chr7:129651767..129654376hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003197
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483299
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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