A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412008



Internal ID22469878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11631115..11663566hg38UCSC Ensembl
chr5:11631227..11663678hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3832452
hg1932452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897392
Supporting Variants
Samples
Known GenesCTNND2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412008
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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