A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790829



Internal ID19516209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82871203..82926274hg38UCSC Ensembl
chr6:83580922..83635993hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3855072
hg1955072
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4334529
Supporting Variants
Samples
Known GenesUBE3D
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)nssv15790829
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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