A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455364



Internal ID233445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134578144..134578207hg38UCSC Ensembl
chr5:133913834..133913897hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974019
Samples
Known GenesJADE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455364
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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