A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4115136



Internal ID20001508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111055568..111088388hg38UCSC Ensembl
chr5:110391266..110424086hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3832821
hg1932821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977615
Samples
Known GenesTSLP
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)nsv4115136
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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