A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156147



Internal ID20030849
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 StatusM
Merged Variants
Supporting Variantsnssv15982048
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 ID12345678
Accession Number(s)nsv4156147
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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