A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459517



Internal ID237533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103171922..103788975hg38UCSC Ensembl
chr5:102507626..103124676hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38617054
hg19617051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971772
Samples
Known GenesC5orf30, LOC102467212, NUDT12, PPIP5K2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459517
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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