A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4147934



Internal ID20371597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2192222..2232910hg38UCSC Ensembl
chr7:2231857..2272545hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3840689
hg1940689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15916642
Samples
Known GenesMAD1L1
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)nsv4147934
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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