A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15938891



Internal ID20010831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112449524..112453775hg38UCSC Ensembl
chr9:115211804..115216055hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg384252
hg194252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4175169
Supporting Variants
Samples
Known GenesHSDL2
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)nssv15938891
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000277


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