A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4202442



Internal ID20064247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106707135..106707380hg38UCSC Ensembl
chr11:106577861..106578106hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951107
Samples
Known GenesGUCY1A2
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)nsv4202442
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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