A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4566299



Internal ID19949499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:58609999..58610000hg38UCSC Ensembl
chr15:58902198..58902199hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16013234
Samples
Known GenesADAM10
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)nsv4566299
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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