A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458348



Internal ID236377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124658876..124668844hg38UCSC Ensembl
chr5:123994569..124004537hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg389969
hg199969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974875
Samples
Known GenesZNF608
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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