A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16012367



Internal ID19737621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43455422..43455423hg38UCSC Ensembl
chr15:43747620..43747621hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4542681
Supporting Variants
Samples
Known GenesRNU6-28P, TP53BP1
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)nssv16012367
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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