A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4562444



Internal ID19945646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24427499..24427500hg38UCSC Ensembl
chr14:24896705..24896706hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16007878
Samples
Known GenesCBLN3
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)nsv4562444
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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