A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467396



Internal ID245209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125418790..125421319hg38UCSC Ensembl
chr5:124754483..124757012hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382530
hg192530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973448
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467396
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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