A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217944



Internal ID20422101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47616645..47623994hg38UCSC Ensembl
chr14:48085848..48093197hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387350
hg197350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv727n166
Supporting Variantsnssv15820247
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)nsv4217944
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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