A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4141228



Internal ID20366743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4784875..4825116hg38UCSC Ensembl
chr7:4824506..4864747hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3840242
hg1940242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980256
Samples
Known GenesAP5Z1, MIR4656, RADIL
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)nsv4141228
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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