A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458200



Internal ID236229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55246910..55251434hg38UCSC Ensembl
chr5:54542738..54547262hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384525
hg194525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966001
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458200
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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