A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4575862



Internal ID20305737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113755638..113755639hg38UCSC Ensembl
chr11:113626360..113626361hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15998233
Samples
Known GenesZW10
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)nsv4575862
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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