A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15938157



Internal ID20010097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2149033..2152051hg38UCSC Ensembl
chr9:2149033..2152051hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg383019
hg193019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4155285
Supporting Variants
Samples
Known GenesSMARCA2
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)nssv15938157
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003088


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