A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967611



Internal ID20039551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41599451..41712150hg38UCSC Ensembl
chr21:43019611..43132310hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38112700
hg19112700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4274625
Supporting Variants
Samples
Known GenesLINC00111, LINC00479
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)nssv15967611
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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