A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16016428



Internal ID20088384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7776561..7776562hg38UCSC Ensembl
chr17:7679879..7679880hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557389
Supporting Variants
Samples
Known GenesDNAH2
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)nssv16016428
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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