A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979278



Internal ID19704532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162167234..162789136hg38UCSC Ensembl
chr6:162588266..163210168hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38621903
hg19621903
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4136204
Supporting Variants
Samples
Known GenesPACRG, PARK2
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 ID12345678
Accession Number(s)nssv15979278
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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