A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1235n166



Internal ID22801134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11818912..11955702hg38UCSC Ensembl
chr2:11959038..12095828hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38136791
hg19136791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4056913, nsv4060690
Samples
Known GenesLPIN1, MIR4262
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)dgv1235n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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