A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956802



Internal ID20028742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:69211091..69229875hg38UCSC Ensembl
chr15:69503430..69522214hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3818785
hg1918785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4235894
Supporting Variants
Samples
Known GenesGLCE
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 ID32461652
Accession Number(s)nssv15956802
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000738


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