A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753759



Internal ID20529619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246642821..246642821hg38UCSC Ensembl
chr1:246806123..246806123hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38925
hg19925
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16267476
Samples
Known GenesCNST
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753759
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