A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15785707



Internal ID19857709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67879654..67887154hg38UCSC Ensembl
chr9:67947100..67954600hg19UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4036094
Supporting Variants
Samples
Known GenesANKRD20A1, ANKRD20A3
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)nssv15785707
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.506592


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