A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15913909



Internal ID19985849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144326149..144333710hg38UCSC Ensembl
chr6:144647285..144654846hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg387562
hg197562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4142789
Supporting Variants
Samples
Known GenesUTRN
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)nssv15913909
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000784


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