A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4571414



Internal ID20301293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58882076..58882077hg38UCSC Ensembl
chr2:59109211..59109212hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384408
hg194408
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16037400
Samples
Known GenesLINC01122
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)nsv4571414
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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