A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181590



Internal ID20748630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62866279..62869141hg38UCSC Ensembl
chr11:62633751..62636613hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg382863
hg192863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470894
Supporting Variants
Samples
Known GenesSLC3A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181590
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00071


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