A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454748



Internal ID232843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160200575..160204723hg38UCSC Ensembl
chr5:159627582..159631730hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384149
hg194149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976002
Samples
Known GenesFABP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454748
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