A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15915060



Internal ID19640314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149930564..149946864hg38UCSC Ensembl
chr6:150251700..150268000hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3816301
hg1916301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4150456
Supporting Variants
Samples
Known GenesULBP2
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)nssv15915060
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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