A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15936243



Internal ID20008183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:28960430..29179256hg38UCSC Ensembl
chr9:28960428..29179254hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38218827
hg19218827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4174014
Supporting Variants
Samples
Known GenesLINGO2
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)nssv15936243
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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