A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4122978



Internal ID20006987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153990306..154662674hg38UCSC Ensembl
chr5:153369866..154042234hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38672369
hg19672369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977015
Samples
Known GenesFAM114A2, GALNT10, HAND1, MFAP3, MIR3141, SAP30L, SAP30L-AS1
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)nsv4122978
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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