A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408047



Internal ID187377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20835421..20835472hg38UCSC Ensembl
chr1:21161914..21161965hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899400
Samples
Known GenesEIF4G3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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