A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573049



Internal ID20302924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201890646..201890647hg38UCSC Ensembl
chr2:202755369..202755370hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16042417
Samples
Known GenesCDK15
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)nsv4573049
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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