A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4287499



Internal ID20119708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29156237..29211137hg38UCSC Ensembl
chr21:30528558..30583458hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3854901
hg1954901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15860603
Samples
Known GenesLINC00189, MAP3K7CL
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)nsv4287499
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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