A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4160994



Internal ID20381063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134678137..134678468hg38UCSC Ensembl
chr7:134362889..134363220hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981957
Samples
Known GenesBPGM
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)nsv4160994
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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