A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398165



Internal ID21055718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81389500..81390785hg38UCSC Ensembl
chr5:80685319..80686604hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18134152
Samples
Known GenesACOT12, RNU5D-1, RNU5E-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6398165
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