A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4557633



Internal ID20287509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146438696..146438697hg38UCSC Ensembl
chr3:146156483..146156484hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16051215
Samples
Known GenesPLSCR2
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)nsv4557633
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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