A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105900



Internal ID19994778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39310715..39311612hg38UCSC Ensembl
chr4:39312335..39313232hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15889621
Samples
Known GenesMIR1273H, RFC1
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)nsv4105900
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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