A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4068731



Internal ID20314004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95037333..95039602hg38UCSC Ensembl
chr2:95703078..95705347hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg382270
hg192270
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968116
Samples
Known GenesMAL
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)nsv4068731
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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