A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15939777



Internal ID20011717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132534753..132541214hg38UCSC Ensembl
chr9:135410140..135416601hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg386462
hg196462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4182408
Supporting Variants
Samples
Known GenesC9orf171
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)nssv15939777
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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