A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193348



Internal ID20760388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18076001..18081400hg38UCSC Ensembl
chr11:18097548..18102947hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6444168
Supporting Variants
Samples
Known GenesSAAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193348
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00022


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