A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563963



Internal ID20293854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63122580..63123921hg38UCSC Ensembl
chr17:61199941..61201282hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg381342
hg191342
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788555
Samples
Known GenesMIR548W, TANC2
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 ID32461652
Accession Number(s)nsv4563963
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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