A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472751



Internal ID250455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5481944..5488646hg38UCSC Ensembl
chr6:5482177..5488879hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg386703
hg196703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978457
Samples
Known GenesFARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472751
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