A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4095987



Internal ID20334067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7795587..7797246hg38UCSC Ensembl
chr4:7797314..7798973hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1772n166
Supporting Variantsnssv15887952
Samples
Known GenesAFAP1
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 ID32461652
Accession Number(s)nsv4095987
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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