A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991081



Internal ID21900424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119449482..119449534hg38UCSC Ensembl
chr3:119168329..119168381hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543547
Samples
Known GenesTMEM39A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991081
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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