A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4092708



Internal ID19984892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:97627267..98413584hg38UCSC Ensembl
chr4:98548418..99334735hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38786318
hg19786318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15894037
Samples
Known GenesRAP1GDS1, STPG2
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)nsv4092708
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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