A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4289174



Internal ID20120468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13106981..14339946hg38UCSC Ensembl
chr21:14479302..15712267hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg381232966
hg191232966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966945
Samples
Known GenesABCC13, ANKRD20A11P, ANKRD30BP2, C21orf15, LIPI, MIR3156-3, MIR8069, POTED, RBM11
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)nsv4289174
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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