A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569449



Internal ID20299330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75883865..75885636hg38UCSC Ensembl
chr7:75513183..75514954hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381772
hg191772
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791130
Samples
Known GenesRHBDD2
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)nsv4569449
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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