A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4160231



Internal ID20033827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:35525590..35526855hg38UCSC Ensembl
chr8:35383108..35384373hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381266
hg191266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15930412
Samples
Known GenesUNC5D
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)nsv4160231
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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