A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4519379



Internal ID20249498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130719426..131207577hg38UCSC Ensembl
chr2:131476999..131965150hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38488152
hg19488152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15871180
Samples
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, PLEKHB2
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)nsv4519379
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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