A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247127



Internal ID20442245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1939413..1950889hg38UCSC Ensembl
chr16:1989414..2000890hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811477
hg1911477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954074
Samples
Known GenesMSRB1, RPL3L
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)nsv4247127
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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