A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748342



Internal ID20524367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126163768..126165938hg38UCSC Ensembl
chr5:125499461..125501631hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382171
hg192171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285256
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748342
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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