A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4117983



Internal ID20003502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95763926..95765550hg38UCSC Ensembl
chr5:95099630..95101254hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381625
hg191625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15903746
Samples
Known GenesRHOBTB3
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 ID12345678
Accession Number(s)nsv4117983
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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