A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4067027



Internal ID20312772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98874983..98877984hg38UCSC Ensembl
chr2:99491446..99494447hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15872542
Samples
Known GenesKIAA1211L
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)nsv4067027
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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