A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512589



Internal ID20885925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88786901..88795300hg38UCSC Ensembl
chr14:89253245..89261644hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2232n223
Supporting Variantsnssv18183363
Samples
Known GenesEML5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512589
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