A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559543



Internal ID332575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119434443..119434494hg38UCSC Ensembl
chr3:119153290..119153341hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939448
Samples
Known GenesTMEM39A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559543
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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