A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350216



Internal ID22575885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1251394..1251480hg38UCSC Ensembl
chr11:1272624..1272710hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5921711
Supporting Variants
Samples
Known GenesMUC5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350216
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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