A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952905



Internal ID19678159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47240753..47241494hg38UCSC Ensembl
chr11:47262304..47263045hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4198696
Supporting Variants
Samples
Known GenesACP2
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)nssv15952905
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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