A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4529455



Internal ID19912885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:25866793..26960794hg38UCSC Ensembl
chr14:26335999..27430000hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381094002
hg191094002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15818640
Samples
Known GenesMIR4307, NOVA1
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)nsv4529455
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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