A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4098119



Internal ID19988962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147755836..148741908hg38UCSC Ensembl
chr4:148676987..149663060hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38986073
hg19986074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15895991
Samples
Known GenesARHGAP10, MIR4799, NR3C2
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)nsv4098119
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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