A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982048



Internal ID20053988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143795672..144780528hg38UCSC Ensembl
chr7:143492765..144477621hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38984857
hg19984857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4156147
Supporting Variants
Samples
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, FAM115A, LOC154761, NOBOX, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, OR2F1, OR2F2, OR6B1, RNU6-57P, TPK1
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)nssv15982048
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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