A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4219996



Internal ID20076877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24220599..24223841hg38UCSC Ensembl
chr14:24689805..24693047hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg383243
hg193243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15818557
Samples
Known GenesNEDD8, NEDD8-MDP1
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)nsv4219996
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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