A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480916



Internal ID21138469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45114301..45115600hg38UCSC Ensembl
chr14:45583504..45584803hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18018738
Samples
Known GenesFKBP3, PRPF39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480916
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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