A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18224782



Internal ID20791822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8076386..8077002hg38UCSC Ensembl
chr6:8076619..8077235hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6405560
Supporting Variants
Samples
Known GenesEEF1E1, EEF1E1-BLOC1S5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18224782
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer