A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4228712



Internal ID20083057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52643870..52677400hg38UCSC Ensembl
chr14:53110588..53144118hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3833531
hg1933531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15821082
Samples
Known GenesERO1L
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)nsv4228712
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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