A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985580



Internal ID19710834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33840011..34156779hg38UCSC Ensembl
chr9:33840009..34156777hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38316769
hg19316769
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4186840
Supporting Variants
Samples
Known GenesDCAF12, SNORD121A, SNORD121B, UBAP2, UBE2R2
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)nssv15985580
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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