A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898058



Internal ID22673169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86155466..86693213hg38UCSC Ensembl
chr4:87076619..87614366hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38537748
hg19537748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427516
Samples
Known GenesMAPK10, PTPN13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898058
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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