A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4527839



Internal ID19911269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44424132..44607873hg38UCSC Ensembl
chr11:44445682..44629423hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38183742
hg19183742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950309
Samples
Known GenesCD82
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 ID12345678
Accession Number(s)nsv4527839
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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