A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4215778



Internal ID20420565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:85384358..85432941hg38UCSC Ensembl
chr14:85850702..85899285hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3848584
hg1948584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15823155
Samples
Known GenesLINC00911
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)nsv4215778
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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