A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15939803



Internal ID19665057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132873768..132887581hg38UCSC Ensembl
chr9:135749155..135762968hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3813814
hg1913814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4179167
Supporting Variants
Samples
Known GenesAK8, C9orf9
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 ID12345678
Accession Number(s)nssv15939803
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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