A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4229123



Internal ID20083359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24444462..24552552hg38UCSC Ensembl
chr14:24913668..25021758hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38108091
hg19108091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950912
Samples
Known GenesCMA1
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)nsv4229123
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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