A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241847



Internal ID20438726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20779748..20914544hg38UCSC Ensembl
chr17:20683061..20817857hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38134797
hg19134797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958164
Samples
Known GenesCCDC144NL, LOC440416
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)nsv4241847
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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