A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454319



Internal ID232421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8179426..8180426hg38UCSC Ensembl
chr5:8179539..8180539hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962003
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454319
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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