A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4162667



Internal ID20382280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114155049..114333646hg38UCSC Ensembl
chr7:113795104..113973701hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38178598
hg19178598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981684
Samples
Known GenesFOXP2
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)nsv4162667
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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