A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4130508



Internal ID20359002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186517264..186675180hg38UCSC Ensembl
chr4:187438418..187596334hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38157917
hg19157917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975780
Samples
Known GenesFAT1, MTNR1A
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)nsv4130508
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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