A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4151155



Internal ID20373902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:101583456..101585584hg38UCSC Ensembl
chr6:102031331..102033459hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg382129
hg192129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15912259
Samples
Known GenesGRIK2
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)nsv4151155
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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