A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483905



Internal ID21141458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35039201..35247052hg38UCSC Ensembl
chr14:35508407..35716258hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38207852
hg19207852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177208
Samples
Known GenesFAM177A1, KIAA0391, PPP2R3C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483905
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