A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553166



Internal ID326439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38064668..38064668hg38UCSC Ensembl
chr3:38106159..38106159hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931845
Samples
Known GenesDLEC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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