A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4238578



Internal ID20089871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105248771..105633037hg38UCSC Ensembl
chr14:105715108..106099374hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38384267
hg19384267
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955999
Samples
Known GenesBRF1, BTBD6, C14orf80, CRIP1, CRIP2, MIR8071-1, MIR8071-2, MTA1, PACS2, TEX22, TMEM121
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)nsv4238578
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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