A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4163120



Internal ID20035920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99027169..99036460hg38UCSC Ensembl
chr7:98624792..98634083hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg389292
hg199292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981892
Samples
Known GenesSMURF1
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)nsv4163120
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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