A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982031



Internal ID20053971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142240182..142292174hg38UCSC Ensembl
chr7:141940000..141992000hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3851993
hg1952001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4155722
Supporting Variants
Samples
Known GenesLOC730441, MOXD2P, PRSS58
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)nssv15982031
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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