A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4522677



Internal ID19906107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50256465..50762166hg38UCSC Ensembl
chr5:49552299..50058000hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38505702
hg19505702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2007n166
Supporting Variantsnssv15976292
Samples
Known GenesEMB, PARP8
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)nsv4522677
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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