A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985348



Internal ID19710602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:19235827..19603548hg38UCSC Ensembl
chr9:19235825..19603546hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38367722
hg19367722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4186015
Supporting Variants
Samples
Known GenesACER2, DENND4C, RPS6, SLC24A2
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)nssv15985348
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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