A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4085718



Internal ID20326471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160038789..160039618hg38UCSC Ensembl
chr2:160895300..160896129hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15871454
Samples
Known GenesPLA2R1
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)nsv4085718
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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