A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425853



Internal ID204803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59710250..59736711hg38UCSC Ensembl
chr1:60175922..60202383hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3826462
hg1926462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906026
Samples
Known GenesFGGY, MIR4711
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425853
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