A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442017



Internal ID220462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171850406..171850538hg38UCSC Ensembl
chr3:171568196..171568328hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943168
Samples
Known GenesTMEM212
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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