A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258976



Internal ID20103694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68835827..68869936hg38UCSC Ensembl
chr17:66831968..66866077hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3834110
hg1934110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958032
Samples
Known GenesABCA8
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)nsv4258976
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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