A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4519963



Internal ID19903393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36534272..36534407hg38UCSC Ensembl
chr2:36761415..36761550hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966474
Samples
Known GenesCRIM1
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)nsv4519963
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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