A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16008251



Internal ID20080207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101099062..101099063hg38UCSC Ensembl
chr13:101751413..101751414hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4544251
Supporting Variants
Samples
Known GenesNALCN
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 ID32461652
Accession Number(s)nssv16008251
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.091833


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