A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4085439



Internal ID19979580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206757282..206765869hg38UCSC Ensembl
chr2:207622006..207630593hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388588
hg198588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1362n166
Supporting Variantsnssv15877002
Samples
Known GenesFASTKD2, MDH1B
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)nsv4085439
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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