A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938666



Internal ID22714049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24323394..24324743hg38UCSC Ensembl
chr18:21903358..21904707hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv964n209
Supporting Variantsnssv17375040
Samples
Known GenesOSBPL1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938666
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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