A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4337055



Internal ID19839919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154971021..155140552hg38UCSC Ensembl
chr3:154688810..154858341hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38169532
hg19169532
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789932
Samples
Known GenesMME
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)nsv4337055
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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