A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4337720



Internal ID20186748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81561388..81568157hg38UCSC Ensembl
chr3:81610539..81617308hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg386770
hg196770
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789829
Samples
Known GenesGBE1
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)nsv4337720
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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