A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4343313



Internal ID20187847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21737805..21739253hg38UCSC Ensembl
chr7:21777423..21778871hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381449
hg191449
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791019
Samples
Known GenesDNAH11
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)nsv4343313
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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