A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv989n166



Internal ID20166417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48919219..48983680hg38UCSC Ensembl
chr17:46996581..47061042hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3864462
hg1964462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4270561, nsv4532435
Samples
Known GenesGIP, SNF8, UBE2Z
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)dgv989n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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