A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4114836



Internal ID20347982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170438052..170442693hg38UCSC Ensembl
chr5:169865056..169869697hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384642
hg194642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15908334
Samples
Known GenesKCNIP1
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)nsv4114836
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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