A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4108087



Internal ID19996375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:34556437..36507744hg38UCSC Ensembl
chr4:34558059..36509366hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381951308
hg191951308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15889354
Samples
Known GenesARAP2, DTHD1
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)nsv4108087
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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