A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946006



Internal ID22721490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24323297..24324831hg38UCSC Ensembl
chr18:21903261..21904795hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381535
hg191535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv964n209
Supporting Variantsnssv17388580
Samples
Known GenesOSBPL1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946006
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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