A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4062361



Internal ID19962687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38760678..38817858hg38UCSC Ensembl
chr2:38987820..39045000hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3857181
hg1957181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15867268
Samples
Known GenesDHX57, GEMIN6
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)nsv4062361
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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