A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15939529



Internal ID20011469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113963421..113968276hg38UCSC Ensembl
chr9:116725701..116730556hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg384856
hg194856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4176165
Supporting Variants
Samples
Known GenesZNF618
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)nssv15939529
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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