A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765630



Internal ID20541490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68262724..68262724hg38UCSC Ensembl
chr5:67558552..67558552hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272705
Samples
Known GenesPIK3R1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765630
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