A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454044



Internal ID232150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18625316..18682302hg38UCSC Ensembl
chr5:18625425..18682411hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3856987
hg1956987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963006
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454044
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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