A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408388



Internal ID187715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146540497..146540548hg38UCSC Ensembl
chr3:146258284..146258335hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940454
Samples
Known GenesPLSCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408388
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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