A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16020648



Internal ID20092604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32696653..32696654hg38UCSC Ensembl
chr18:30276616..30276617hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4500173
Supporting Variants
Samples
Known GenesKLHL14
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv16020648
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000876


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