A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4216728



Internal ID20074550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35260146..35282132hg38UCSC Ensembl
chr14:35729352..35751338hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3821987
hg1921987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950926
Samples
Known GenesKIAA0391, PSMA6
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)nsv4216728
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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