A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456065



Internal ID234135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158699249..158699326hg38UCSC Ensembl
chr5:158126257..158126334hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977402
Samples
Known GenesEBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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