A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4181710



Internal ID20395976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:9791315..9856416hg38UCSC Ensembl
chr9:9791315..9856416hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3865102
hg1965102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15939404
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)nsv4181710
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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