A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4144391



Internal ID20369006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66918354..66934484hg38UCSC Ensembl
chr7:66383341..66399471hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3816131
hg1916131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981776
Samples
Known GenesTMEM248
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)nsv4144391
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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