A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460746



Internal ID238717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133169807..133184000hg38UCSC Ensembl
chr5:132505499..132519692hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3814194
hg1914194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974343
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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