A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16005109



Internal ID19730363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51864114..51864115hg38UCSC Ensembl
chr13:52438250..52438251hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4508674
Supporting Variants
Samples
Known GenesCCDC70
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)nssv16005109
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00014


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