A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767269



Internal ID20543129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117611609..117611609hg38UCSC Ensembl
chr8:118623848..118623848hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg383452
hg193452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294511
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767269
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