A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4180628



Internal ID20048522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33870352..34079409hg38UCSC Ensembl
chr9:33870350..34079407hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38209058
hg19209058
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985582
Samples
Known GenesSNORD121A, 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)nsv4180628
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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