A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789172



Internal ID19861221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3071829..3229112hg38UCSC Ensembl
chr1:2988393..3145676hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38157284
hg19157284
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4329450
Supporting Variants
Samples
Known GenesMIR4251, PRDM16
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15789172
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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