A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16080313



Internal ID19805578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73024586..73024587hg38UCSC Ensembl
chr8:73936821..73936822hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4487006
Supporting Variants
Samples
Known GenesTERF1
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)nssv16080313
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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