A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4472041



Internal ID20202039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99862591..99862592hg38UCSC Ensembl
chr4:100783748..100783749hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16056316
Samples
Known GenesDAPP1
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)nsv4472041
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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