A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4531981



Internal ID19915412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28346799..28430008hg38UCSC Ensembl
chr17:26673825..26757026hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3883210
hg1983202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958220
Samples
Known GenesMIR4723, POLDIP2, SARM1, SEBOX, SLC46A1, TMEM199, TNFAIP1, VTN
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)nsv4531981
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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