A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6398569



Internal ID21056122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84331213..85552553hg38UCSC Ensembl
chr5:83627031..84848371hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381221341
hg191221341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18135254
Samples
Known GenesEDIL3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6398569
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