A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462313



Internal ID240241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58127682..58168337hg38UCSC Ensembl
chr5:57423509..57464164hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3840656
hg1940656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967862
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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