A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4252295



Internal ID20099021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4537237..4655794hg38UCSC Ensembl
chr17:4440532..4559089hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38118558
hg19118558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv955n166
Supporting Variantsnssv15958098
Samples
Known GenesALOX15, GGT6, MYBBP1A, 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 ID12345678
Accession Number(s)nsv4252295
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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