A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940130



Internal ID22715534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24433251..24436295hg38UCSC Ensembl
chr18:22013215..22016259hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383045
hg193045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389359
Samples
Known GenesIMPACT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940130
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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