A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221108



Internal ID20424334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47607004..47646154hg38UCSC Ensembl
chr14:48076207..48115357hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3839151
hg1939151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956680
Samples
Known GenesMDGA2
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 ID32461652
Accession Number(s)nsv4221108
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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