A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv955n166



Internal ID22800854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4537237..4675873hg38UCSC Ensembl
chr17:4440532..4579168hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38138637
hg19138637
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4252295, nsv4238770
Samples
Known GenesALOX15, GGT6, MYBBP1A, PELP1, SMTNL2, SPNS2
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)dgv955n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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