A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4338462



Internal ID19840202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131505647..131906052hg38UCSC Ensembl
chr6:131826787..132227192hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38400406
hg19400406
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790909
Samples
Known GenesARG1, CTAGE9, ENPP1, ENPP3, MED23, OR2A4
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4338462
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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