A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960647



Internal ID19685901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59087960..59616490hg38UCSC Ensembl
chr17:57165321..57693851hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38528531
hg19528531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4268352
Supporting Variants
Samples
Known GenesDHX40, GDPD1, MIR301A, MIR454, MIR4729, PRR11, SKA2, SMG8, TRIM37, YPEL2
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)nssv15960647
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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