A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4561244



Internal ID20291129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:25718881..25772045hg38UCSC Ensembl
chr10:26007810..26060974hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3853165
hg1953165
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787314
Samples
Known GenesLINC00836
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)nsv4561244
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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