A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980396



Internal ID19705650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:25965783..26277108hg38UCSC Ensembl
chr7:26005403..26316728hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38311326
hg19311326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4135067
Supporting Variants
Samples
Known GenesCBX3, HNRNPA2B1, NFE2L3
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)nssv15980396
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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