A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414809



Internal ID194077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74705548..74705598hg38UCSC Ensembl
chr14:75172251..75172301hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699318
Samples
Known GenesAREL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414809
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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