A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4144784



Internal ID20369282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73331611..73340501hg38UCSC Ensembl
chr7:72745614..72754503hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg388891
hg198890
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981002
Samples
Known GenesFKBP6
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)nsv4144784
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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