A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4520139



Internal ID20250258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54666262..54666713hg38UCSC Ensembl
chr2:54893399..54893850hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15868280
Samples
Known GenesSPTBN1
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)nsv4520139
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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