A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4237867



Internal ID20089387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15230481..15294208hg38UCSC Ensembl
chr17:15133798..15197525hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3863728
hg1963728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959922
Samples
Known GenesMIR4731, PMP22
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)nsv4237867
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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