A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177360



Internal ID20744400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:7086001..7093200hg38UCSC Ensembl
chr11:7107232..7114431hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387200
hg197200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6450242
Supporting Variants
Samples
Known GenesRBMXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177360
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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