A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4276610



Internal ID20114907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:28906752..28946085hg38UCSC Ensembl
chr21:30279074..30318407hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3839334
hg1939334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15860588
Samples
Known GenesLTN1
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)nsv4276610
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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