A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485376



Internal ID21142929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50046886..50048699hg38UCSC Ensembl
chr14:50513604..50515417hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381814
hg191814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180735
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485376
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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