A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15864032



Internal ID19935972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41894051..41899142hg38UCSC Ensembl
chr21:43314160..43319251hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385092
hg195092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4282181
Supporting Variants
Samples
Known GenesC2CD2
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)nssv15864032
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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