A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468353



Internal ID246151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72236731..72236810hg38UCSC Ensembl
chr5:71532558..71532637hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967506
Samples
Known GenesMRPS27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468353
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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