A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4285138



Internal ID20118667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43121959..43471196hg38UCSC Ensembl
chr21:44542069..44891076hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38349238
hg19349008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967645
Samples
Known GenesCRYAA, LINC00313, 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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4285138
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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