A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755413



Internal ID20531273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117097523..117097523hg38UCSC Ensembl
chr8:118109762..118109762hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263099
Samples
Known GenesSLC30A8
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755413
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