A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17413064



Internal ID22470934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:59133296..59208291hg38UCSC Ensembl
chr4:59999014..60074009hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3874996
hg1974996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894164
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17413064
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer