A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4161754



Internal ID20381615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138001110..138001505hg38UCSC Ensembl
chr7:137685856..137686251hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15925888
Samples
Known GenesCREB3L2
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)nsv4161754
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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