A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4053543



Internal ID20178267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66533804..66534652hg38UCSC Ensembl
chr2:66760936..66761784hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15867079
Samples
Known GenesMEIS1
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 ID32461652
Accession Number(s)nsv4053543
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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