A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336489



Internal ID19839811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44099740..44102421hg38UCSC Ensembl
chr11:44121290..44123971hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382682
hg192682
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787545
Samples
Known GenesEXT2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4336489
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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