A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4332562



Internal ID19839103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146413431..146620594hg38UCSC Ensembl
chr3:146131218..146338381hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38207164
hg19207164
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789922
Samples
Known GenesPLSCR1, PLSCR2, PLSCR5
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 ID12345678
Accession Number(s)nsv4332562
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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