A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558002



Internal ID20287881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230527671..230527672hg38UCSC Ensembl
chr2:231392386..231392387hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16043989
Samples
Known GenesSP100
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)nsv4558002
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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