A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982773



Internal ID19708027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:21857451..22533714hg38UCSC Ensembl
chr8:21714962..22391227hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38676264
hg19676266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4160314
Supporting Variants
Samples
Known GenesBMP1, DMTN, DOK2, FAM160B2, FGF17, HR, LGI3, MIR320A, NPM2, NUDT18, PHYHIP, PIWIL2, POLR3D, PPP3CC, REEP4, SFTPC, SLC39A14, XPO7
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)nssv15982773
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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