A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15825121



Internal ID19897207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:26665802..26680162hg38UCSC Ensembl
chr15:26910949..26925309hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg3814361
hg1914361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4249622
Supporting Variants
Samples
Known GenesGABRB3
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)nssv15825121
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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