A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968400



Internal ID22743335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24175116..24175116hg38UCSC Ensembl
chr18:21755080..21755080hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379199
Samples
Known GenesOSBPL1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968400
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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