A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4243826



Internal ID20440033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61702503..61703336hg38UCSC Ensembl
chr16:61736407..61737240hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15830029
Samples
Known GenesCDH8
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)nsv4243826
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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