A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4066299



Internal ID20312224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98083956..98180483hg38UCSC Ensembl
chr2:98700419..98796946hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3896528
hg1996528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15872509
Samples
Known GenesVWA3B
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)nsv4066299
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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