A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964350



Internal ID19689606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119806588..119806670hg38UCSC Ensembl
chr1:120349211..120349293hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4060159
Supporting Variants
Samples
Known GenesREG4
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)nssv15964350
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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