A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345177



Internal ID19841497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43295333..43484040hg38UCSC Ensembl
chr21:44715213..44903920hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38188708
hg19188708
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789336
Samples
Known GenesLINC00313, LINC00319, LINC00322, SIK1
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)nsv4345177
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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