A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420582



Internal ID199681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54619101..54619152hg38UCSC Ensembl
chr14:55085819..55085870hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696292
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420582
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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