A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951729



Internal ID20023669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69455157..69512765hg38UCSC Ensembl
chr14:69921874..69979482hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3857609
hg1957609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213404
Supporting Variants
Samples
Known GenesPLEKHD1, SLC39A9
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)nssv15951729
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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