A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4230499



Internal ID20084330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34388998..34457653hg38UCSC Ensembl
chr14:34858204..34926859hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3868656
hg1968656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952673
Samples
Known GenesSPTSSA
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)nsv4230499
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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