A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4171261



Internal ID20388569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8566700..8625107hg38UCSC Ensembl
chr9:8566700..8625107hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3858408
hg1958408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985699
Samples
Known GenesPTPRD
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)nsv4171261
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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