A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973925



Internal ID20045865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120921405..121286122hg38UCSC Ensembl
chr3:120640252..121004969hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38364718
hg19364718
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4084390
Supporting Variants
Samples
Known GenesSTXBP5L
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)nssv15973925
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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