A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562118



Internal ID335077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108851089..108851140hg38UCSC Ensembl
chr3:108569936..108569987hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938522
Samples
Known GenesTRAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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