A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979759



Internal ID19705013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170457328..170536367hg38UCSC Ensembl
chr6:170766416..170845455hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3879040
hg1979040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4136988
Supporting Variants
Samples
Known GenesPSMB1
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)nssv15979759
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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