A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4245488



Internal ID20441152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21002166..21053967hg38UCSC Ensembl
chr16:21013488..21065288hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3851802
hg1951801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv880n166
Supporting Variantsnssv15829182
Samples
Known GenesDNAH3
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)nsv4245488
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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