A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241640



Internal ID20438588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32680059..32689420hg38UCSC Ensembl
chr17:31007077..31016438hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389362
hg199362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv974n166
Supporting Variantsnssv15835776
Samples
Known GenesMYO1D
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)nsv4241640
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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