A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472219



Internal ID249935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77779253..77779311hg38UCSC Ensembl
chr5:77075077..77075135hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968495
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472219
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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