A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496453



Internal ID20869655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99746316..100046234hg38UCSC Ensembl
chr14:100212653..100512571hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38299919
hg19299919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186805
Samples
Known GenesEML1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496453
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