A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4166435



Internal ID20385019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120794996..120805143hg38UCSC Ensembl
chr7:120435050..120445197hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3810148
hg1910148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15923715
Samples
Known GenesTSPAN12
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)nsv4166435
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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