A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966735



Internal ID20038675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44627853..44627999hg38UCSC Ensembl
chr21:46047770..46047916hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4286336
Supporting Variants
Samples
Known GenesKRTAP10-9, TSPEAR
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)nssv15966735
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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