A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4224060



Internal ID20079750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24237794..24244294hg38UCSC Ensembl
chr14:24707000..24713500hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386501
hg196501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950909
Samples
Known GenesGMPR2, TINF2
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)nsv4224060
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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