A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4062044



Internal ID20309135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44405812..44507018hg38UCSC Ensembl
chr2:44632951..44734157hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38101207
hg19101207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968968
Samples
Known GenesCAMKMT
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)nsv4062044
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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