A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4131821



Internal ID20359915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15287039..15322982hg38UCSC Ensembl
chr6:15287270..15323213hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3835944
hg1935944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15907839
Samples
Known GenesJARID2
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)nsv4131821
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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