A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4318300



Internal ID20184820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142220160..142222163hg38UCSC Ensembl
chr6:142541297..142543300hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382004
hg192004
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090398
Samples
Known GenesVTA1
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)nsv4318300
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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