A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4096229



Internal ID19987561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127922587..128162315hg38UCSC Ensembl
chr4:128843742..129083470hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38239729
hg19239729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972874
Samples
Known GenesC4orf29, LARP1B, MFSD8
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)nsv4096229
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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