A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4256683



Internal ID20448755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9116018..9163795hg38UCSC Ensembl
chr18:9116016..9163793hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3847778
hg1947778
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959337
Samples
Known GenesANKRD12, NDUFV2
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)nsv4256683
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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