A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438164



Internal ID216733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13555184..13555623hg38UCSC Ensembl
chr3:13596684..13597123hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16929520
Samples
Known GenesFBLN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438164
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer