A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394441



Internal ID173872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119753424..119753475hg38UCSC Ensembl
chr3:119472271..119472322hg19UCSC Ensembl
Cytoband3q13.33
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 Variantsnssv16938683
Samples
Known GenesMAATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394441
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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