A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15993628



Internal ID19718882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89397331..89397332hg38UCSC Ensembl
chr10:91157088..91157089hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4540637
Supporting Variants
Samples
Known GenesIFIT1
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)nssv15993628
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.023482


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