A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463471



Internal ID241374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132012290..132012416hg38UCSC Ensembl
chr5:131347983..131348109hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974997
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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