A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6414786



Internal ID21072339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58722430..58821100hg38UCSC Ensembl
chr5:58018257..58116927hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3898671
hg1998671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216458
Samples
Known GenesRAB3C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6414786
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