A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957304



Internal ID19682558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104812663..104947663hg38UCSC Ensembl
chr14:105279000..105414000hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38135001
hg19135001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4237623
Supporting Variants
Samples
Known GenesAHNAK2, CEP170B, LINC00638, PLD4
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)nssv15957304
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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