A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4340934



Internal ID19840719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5165989..5803473hg38UCSC Ensembl
chr7:5205620..5843104hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38637485
hg19637485
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790982
Samples
Known GenesACTB, FBXL18, FSCN1, MIR589, MIR6874, RNF216, RNF216-IT1, SLC29A4, TNRC18, WIPI2
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)nsv4340934
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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