A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16025345



Internal ID20097301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6220792..6220793hg38UCSC Ensembl
chr1:6280852..6280853hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4565816
Supporting Variants
Samples
Known GenesRNF207
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)nssv16025345
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000645


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