A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790821



Internal ID19516201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:78886454..78890977hg38UCSC Ensembl
chr6:79596171..79600694hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg384524
hg194524
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566760
Supporting Variants
Samples
Known GenesIRAK1BP1
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)nssv15790821
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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