A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4268167



Internal ID20110103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10460034..10463935hg38UCSC Ensembl
chr18:10460031..10463932hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15838528
Samples
Known GenesAPCDD1
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)nsv4268167
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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