A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15908210



Internal ID19980150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6294767..6300767hg38UCSC Ensembl
chr6:6295000..6301000hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4129015
Supporting Variants
Samples
Known GenesF13A1
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)nssv15908210
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.017787


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