A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472221



Internal ID249937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109512802..109518057hg38UCSC Ensembl
chr5:108848503..108853758hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385256
hg195256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971891
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472221
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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