A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896343



Internal ID22671434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95951411..95967450hg38UCSC Ensembl
chr5:95287115..95303154hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816040
hg1916040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416376
Samples
Known GenesELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896343
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