A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4151631



Internal ID20374247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165982474..165988982hg38UCSC Ensembl
chr6:166395962..166402470hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg386509
hg196509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15915390
Samples
Known GenesLINC00473, LINC00602
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)nsv4151631
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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