A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4575250



Internal ID20305125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6414033..6414034hg38UCSC Ensembl
chr11:6435263..6435264hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15996383
Samples
Known GenesAPBB1
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)nsv4575250
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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