A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251694



Internal ID20445295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19011687..19022687hg38UCSC Ensembl
chr17:18915000..18926000hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3811001
hg1911001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958132
Samples
Known GenesGRAP, SLC5A10
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 ID32461652
Accession Number(s)nsv4251694
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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