A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15936894



Internal ID20008834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:101373218..101377219hg38UCSC Ensembl
chr9:104135500..104139501hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg384002
hg194002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4173036
Supporting Variants
Samples
Known GenesBAAT
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)nssv15936894
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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