A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105693



Internal ID19994611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3040273..3047273hg38UCSC Ensembl
chr4:3042000..3049000hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15887858
Samples
Known GenesGRK4
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)nsv4105693
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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