A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4269906



Internal ID20111321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9880003..9902003hg38UCSC Ensembl
chr18:9880000..9902000hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3822001
hg1922001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959352
Samples
Known GenesTXNDC2
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)nsv4269906
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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