A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221749



Internal ID20078112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64397097..64397180hg38UCSC Ensembl
chr14:64863815..64863898hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv732n166
Supporting Variantsnssv15821584
Samples
Known GenesMIR548AZ, MTHFD1
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)nsv4221749
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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