A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15937346



Internal ID20009286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:86777957..86954019hg38UCSC Ensembl
chr9:89392872..89568934hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38176063
hg19176063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4188164
Supporting Variants
Samples
Known GenesGAS1, LOC100506834
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)nssv15937346
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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