A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975305



Internal ID19700559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34377431..34661992hg38UCSC Ensembl
chr5:34377536..34662097hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38284562
hg19284562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4113345
Supporting Variants
Samples
Known GenesRAI14
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)nssv15975305
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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