A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15844849



Internal ID19916935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48887848..48914224hg38UCSC Ensembl
chr19:49391105..49417481hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3826377
hg1926377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4270743
Supporting Variants
Samples
Known GenesNUCB1, TULP2
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)nssv15844849
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000149


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