A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4115182



Internal ID20348229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170322356..170337271hg38UCSC Ensembl
chr5:169749360..169764275hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3814916
hg1914916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15908329
Samples
Known GenesLOC257358
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)nsv4115182
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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