A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936383



Internal ID22711736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31940584..31940910hg38UCSC Ensembl
chr18:29520547..29520873hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381091
Samples
Known GenesTRAPPC8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936383
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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