A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963445



Internal ID19688700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70413440..70413956hg38UCSC Ensembl
chr1:70879123..70879639hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4036618
Supporting Variants
Samples
Known GenesCTH
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)nssv15963445
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000323


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