A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4131327



Internal ID20012890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141542346..141547336hg38UCSC Ensembl
chr5:140921913..140926903hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384991
hg194991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15904853
Samples
Known GenesDIAPH1
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)nsv4131327
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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