A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4162564



Internal ID20035519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106248652..106248900hg38UCSC Ensembl
chr7:105889098..105889346hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15982569
Samples
Known GenesNAMPT
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)nsv4162564
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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