A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15891709



Internal ID19963649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119303379..119400971hg38UCSC Ensembl
chr4:120224534..120322126hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3897593
hg1997593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4104766
Supporting Variants
Samples
Known GenesC4orf3, FABP2
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)nssv15891709
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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