A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247059



Internal ID20442194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:73750281..74500799hg38UCSC Ensembl
chr16:73784180..74534697hg19UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg38750519
hg19750518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955043
Samples
Known GenesCLEC18B, GLG1, LOC101928035, LOC283922, PSMD7
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)nsv4247059
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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