A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445119



Internal ID223477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243516885..243517044hg38UCSC Ensembl
chr1:243680187..243680346hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898149
Samples
Known GenesAKT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445119
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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