A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972096



Internal ID19697350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155424263..155594320hg38UCSC Ensembl
chr3:155142052..155312109hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38170058
hg19170058
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4092587
Supporting Variants
Samples
Known GenesPLCH1
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)nssv15972096
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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