A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4177619



Internal ID20393064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120529670..120549067hg38UCSC Ensembl
chr9:123291948..123311345hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3819398
hg1919398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15939694
Samples
Known GenesCDK5RAP2
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)nsv4177619
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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