A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531838



Internal ID20905199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5486101..5492800hg38UCSC Ensembl
chr18:5486100..5492799hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181603
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531838
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