A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975429



Internal ID20047369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179974999..180041000hg38UCSC Ensembl
chr5:179401999..179468000hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3866002
hg1966002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522666
Supporting Variants
Samples
Known GenesMIR340, RNF130
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)nssv15975429
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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