A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970564



Internal ID19695818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197879544..198071808hg38UCSC Ensembl
chr3:197606415..197798679hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38192265
hg19192265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4103176
Supporting Variants
Samples
Known GenesANKRD18DP, IQCG, LMLN, RPL35A
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)nssv15970564
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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