A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569100



Internal ID20298981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32120897..32120898hg38UCSC Ensembl
chr2:32345966..32345967hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16036532
Samples
Known GenesSPAST
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)nsv4569100
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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