A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4338433



Internal ID20186885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100063314..100076591hg38UCSC Ensembl
chr3:99782158..99795435hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3813278
hg1913278
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789849
Samples
Known GenesCMSS1, FILIP1L
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)nsv4338433
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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