A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473708



Internal ID251391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44618692..44625352hg38UCSC Ensembl
chr5:44618794..44625454hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg386661
hg196661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965434
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473708
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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