A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4530875



Internal ID19914305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28650802..28651126hg38UCSC Ensembl
chr17:26977820..26978144hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv971n166
Supporting Variantsnssv15958781
Samples
Known GenesSDF2
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)nsv4530875
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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