A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199424



Internal ID20408744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67513841..67520473hg38UCSC Ensembl
chr11:67281312..67287944hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg386633
hg196633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15804566
Samples
Known GenesCABP2
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)nsv4199424
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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