A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445827



Internal ID224168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:26982564..27388155hg38UCSC Ensembl
chr3:27024055..27429646hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38405592
hg19405592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932096
Samples
Known GenesNEK10, SLC4A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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