A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1001n166



Internal ID22800900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63870267..63913575hg38UCSC Ensembl
chr17:61947627..61990935hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3843309
hg1943309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4265372, nsv4268646
Samples
Known GenesCSH1, CSH2, CSHL1, GH2
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)dgv1001n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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