A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16030309



Internal ID20102265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28212597..28212598hg38UCSC Ensembl
chr1:28539108..28539109hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381230
hg191230
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4562620
Supporting Variants
Samples
Known GenesDNAJC8
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)nssv16030309
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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