A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957515



Internal ID19682769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55806801..55922902hg38UCSC Ensembl
chr15:56098999..56215100hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38116102
hg19116102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529008
Supporting Variants
Samples
Known GenesNEDD4
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)nssv15957515
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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