A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455746



Internal ID233823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120097807..120267807hg38UCSC Ensembl
chr5:119433502..119603502hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38170001
hg19170001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974796
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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