A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5921711



Internal ID22696935
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 StatusM
Merged Variants
Supporting Variantsnssv17350216
Samples
Known GenesMUC5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5921711
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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