A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4467624



Internal ID20197595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63496460..63496461hg38UCSC Ensembl
chr2:63723594..63723595hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16037709
Samples
Known GenesWDPCP
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)nsv4467624
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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