A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4323299



Internal ID20185153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101259636..101698861hg38UCSC Ensembl
chr7:100902917..101342141hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38439226
hg19439225
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091418
Samples
Known GenesCOL26A1, LINC01007, MYL10, RABL5
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4323299
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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