A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4087335



Internal ID19980961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187060..2049966hg38UCSC Ensembl
chr3:228743..2091650hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381862907
hg191862908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1580n166
Supporting Variantsnssv15971187
Samples
Known GenesCHL1, CNTN6
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)nsv4087335
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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