A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271232



Internal ID20112271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48825008..48850238hg38UCSC Ensembl
chr19:49328265..49353495hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3825231
hg1925231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15844844
Samples
Known GenesHSD17B14, PLEKHA4
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)nsv4271232
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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