A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4329450



Internal ID20185544
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 StatusM
Merged Variants
Supporting Variantsnssv15789172
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)nsv4329450
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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