A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960307



Internal ID20032247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58868390..58888489hg38UCSC Ensembl
chr18:56535622..56555721hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3820100
hg1920100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4269069
Supporting Variants
Samples
Known GenesZNF532
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)nssv15960307
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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