A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4145186



Internal ID20022871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2423464..2566901hg38UCSC Ensembl
chr7:2463099..2606535hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38143438
hg19143437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979888
Samples
Known GenesBRAT1, CHST12, IQCE, LFNG, LOC101927181, MIR4648
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)nsv4145186
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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