A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895406



Internal ID22670488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43227462..43239707hg38UCSC Ensembl
chr5:43227564..43239809hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3812246
hg1912246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427822
Samples
Known GenesNIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895406
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