A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467303



Internal ID245122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132725448..132725581hg38UCSC Ensembl
chr5:132061140..132061273hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975039
Samples
Known GenesKIF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467303
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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