A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454082



Internal ID232186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139577448..139578996hg38UCSC Ensembl
chr5:138957033..138958581hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381549
hg191549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976126
Samples
Known GenesUBE2D2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454082
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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