A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4152612



Internal ID20028277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:140429472..140526763hg38UCSC Ensembl
chr8:141439571..141536862hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3897292
hg1997292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984759
Samples
Known GenesCHRAC1, TRAPPC9
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)nsv4152612
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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