A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4531268



Internal ID20261387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72858784..73519542hg38UCSC Ensembl
chr16:72892683..73553441hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg38660759
hg19660759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955036
Samples
Known GenesC16orf47, HCCAT5, LOC100506172, ZFHX3
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)nsv4531268
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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