A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4518570



Internal ID19902000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11268060..11923647hg38UCSC Ensembl
chr2:11408186..12063773hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38655588
hg19655588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968686
Samples
Known GenesE2F6, GREB1, LINC00570, LPIN1, MIR4262, MIR4429, NTSR2, ROCK2
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 ID12345678
Accession Number(s)nsv4518570
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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