A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16073251



Internal ID19798505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21435453..21435454hg38UCSC Ensembl
chr7:21475071..21475072hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4558876
Supporting Variants
Samples
Known GenesSP4
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)nssv16073251
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000369


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