A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377387



Internal ID22435257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31924208..31940387hg38UCSC Ensembl
chr18:29504171..29520350hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3816180
hg1916180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932404
Supporting Variants
Samples
Known GenesTRAPPC8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377387
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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