A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4130067



Internal ID20358705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131391109..131391828hg38UCSC Ensembl
chr5:130726802..130727521hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15904744
Samples
Known GenesCDC42SE2
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)nsv4130067
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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