A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410379



Internal ID189694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43088005..43088056hg38UCSC Ensembl
chr3:43129497..43129548hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931954
Samples
Known GenesPOMGNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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