A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4230096



Internal ID20430733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22953593..22965812hg38UCSC Ensembl
chr14:23422802..23435021hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3812220
hg1912220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950880
Samples
Known GenesHAUS4, MIR4707
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)nsv4230096
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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