A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4314066



Internal ID19837877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123334037..126077247hg38UCSC Ensembl
chr2:124091613..126834824hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382743211
hg192743212
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091302
Samples
Known GenesCNTNAP5
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)nsv4314066
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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