A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4166650



Internal ID20038492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38993481..39000481hg38UCSC Ensembl
chr8:38851000..38858000hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983532
Samples
Known GenesADAM9, TM2D2
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)nsv4166650
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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