A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976209



Internal ID20048149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9866887..9921888hg38UCSC Ensembl
chr5:9866999..9922000hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3855002
hg1955002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522031
Supporting Variants
Samples
Known GenesLOC285692
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)nssv15976209
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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