A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15978471



Internal ID19703725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24064663..24179744hg38UCSC Ensembl
chr6:24064891..24179972hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38115082
hg19115082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4125807
Supporting Variants
Samples
Known GenesDCDC2, NRSN1
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)nssv15978471
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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