A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936920



Internal ID22712281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48849699..48880056hg38UCSC Ensembl
chr18:46376070..46406426hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3830358
hg1930357
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389380
Samples
Known GenesCTIF
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936920
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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