A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4101784



Internal ID20338354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101115363..101317788hg38UCSC Ensembl
chr4:102036520..102238945hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38202426
hg19202426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975635
Samples
Known GenesMIR8066, PPP3CA
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)nsv4101784
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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