A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047775



Internal ID20174229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9070967..9094067hg38UCSC Ensembl
chr21:9909800..9932900hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3823101
hg1923101
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15781552, nssv15781555, nssv15781553, nssv15781551, nssv15781556, nssv15781554
Samples
Known GenesTEKT4P2
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4047775
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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