A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4523004



Internal ID19906434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77688918..78232634hg38UCSC Ensembl
chr5:76984743..77528458hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38543717
hg19543716
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977354
Samples
Known GenesAP3B1, LOC101929154, TBCA
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)nsv4523004
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer