A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396360



Internal ID175778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133049018..133049069hg38UCSC Ensembl
chr3:132767862..132767913hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939597
Samples
Known GenesTMEM108
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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