A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957601



Internal ID19682855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78130432..78138883hg38UCSC Ensembl
chr15:78422774..78431225hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg388452
hg198452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4248657
Supporting Variants
Samples
Known GenesCIB2
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)nssv15957601
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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