A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6404081



Internal ID21061634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79987301..79996400hg38UCSC Ensembl
chr5:79283124..79292223hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214199
Samples
Known GenesMTX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6404081
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