A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4118606



Internal ID20350630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156942072..156944576hg38UCSC Ensembl
chr5:156369083..156371587hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382505
hg192505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15906303
Samples
Known GenesTIMD4
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)nsv4118606
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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