A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4544775



Internal ID19927964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95991042..95991043hg38UCSC Ensembl
chr11:95724206..95724207hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15997112
Samples
Known GenesMAML2
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)nsv4544775
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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