A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4182345



Internal ID20396447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:71949547..71961292hg38UCSC Ensembl
chr9:74564463..74576208hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3811746
hg1911746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2769n166
Supporting Variantsnssv15935970
Samples
Known GenesC9orf85
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)nsv4182345
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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