A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787607



Internal ID19859633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:88154736..88179680hg38UCSC Ensembl
chr11:87887904..87912848hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3824945
hg1924945
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4332831
Supporting Variants
Samples
Known GenesRAB38
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 ID32461652
Accession Number(s)nssv15787607
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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