A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4342453



Internal ID19840992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32053959..32209546hg38UCSC Ensembl
chr17:30380978..30536565hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38155588
hg19155588
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788506
Samples
Known GenesARGFXP2, RHOT1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4342453
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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