A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528564



Internal ID20258683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19655446..19663917hg38UCSC Ensembl
chr11:19676992..19685463hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg388472
hg198472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv335n166
Supporting Variantsnssv15799601
Samples
Known GenesNAV2
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)nsv4528564
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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