A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4570202



Internal ID20300083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60002339..60004889hg38UCSC Ensembl
chr17:58079700..58082250hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg382551
hg192551
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788551
Samples
Known GenesTBC1D3P1-DHX40P1
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)nsv4570202
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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