A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6395719



Internal ID21053272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80516087..80517980hg38UCSC Ensembl
chr5:79811906..79813799hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381894
hg191894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214215
Samples
Known GenesFAM151B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6395719
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