A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982007



Internal ID20053947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140381200..140400200hg38UCSC Ensembl
chr7:140081000..140100000hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3819001
hg1919001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4163893
Supporting Variants
Samples
Known GenesSLC37A3
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 ID32461652
Accession Number(s)nssv15982007
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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