A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16082842



Internal ID19808112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107265131..107265132hg38UCSC Ensembl
chr8:108277359..108277360hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4483681
Supporting Variants
Samples
Known GenesANGPT1
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 ID12345678
Accession Number(s)nssv16082842
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005166


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