A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4164822



Internal ID20037160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100366377..100375627hg38UCSC Ensembl
chr7:99964000..99973250hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg389251
hg199251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981920
Samples
Known GenesPILRA, PILRB, STAG3L5P-PVRIG2P-PILRB
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)nsv4164822
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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