A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142296



Internal ID20367517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4833662..4996492hg38UCSC Ensembl
chr7:4873293..5036123hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38162831
hg19162831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15917108
Samples
Known GenesMMD2, PAPOLB, RADIL, RNF216P1
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)nsv4142296
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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