A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4201432



Internal ID20063537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47841676..48203541hg38UCSC Ensembl
chr11:47863228..48225093hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38361866
hg19361866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv363n166
Supporting Variantsnssv15952914
Samples
Known GenesNUP160, PTPRJ
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)nsv4201432
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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