A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4343000



Internal ID20187792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68355502..68359382hg38UCSC Ensembl
chr15:68647840..68651720hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg383881
hg193881
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788278
Samples
Known GenesITGA11
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)nsv4343000
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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