A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208480



Internal ID20775521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127816252..128456391hg38UCSC Ensembl
chr3:127535095..128175234hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38640140
hg19640140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6375136
Supporting Variants
Samples
Known GenesEEFSEC, KBTBD12, MGLL, RUVBL1, SEC61A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208480
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