A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15802328



Internal ID19527728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30424614..30425763hg38UCSC Ensembl
chr11:30446161..30447310hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4200015
Supporting Variants
Samples
Known GenesMPPED2
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)nssv15802328
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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