A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4109402



Internal ID19997340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98843310..99189455hg38UCSC Ensembl
chr4:99764461..100110612hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38346146
hg19346152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975608
Samples
Known GenesADH4, ADH5, EIF4E, LOC100507053, METAP1, MIR3684, PCNAP1
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)nsv4109402
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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