A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183957



Internal ID20397579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44713080..44864432hg38UCSC Ensembl
chr10:45208528..45359880hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38151353
hg19151353
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947881
Samples
Known GenesTMEM72-AS1
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)nsv4183957
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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