A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16058851



Internal ID19784105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9627368..9627369hg38UCSC Ensembl
chr5:9627480..9627481hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4550902
Supporting Variants
Samples
Known Genes
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)nssv16058851
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.017256


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