A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464918



Internal ID242789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171808508..171808574hg38UCSC Ensembl
chr5:171235512..171235578hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977182
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464918
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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