A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052412



Internal ID20177445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77761188..77762333hg38UCSC Ensembl
chr9:80376104..80377249hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15785843, nssv15785840, nssv15785839, nssv15785841, nssv15785844, nssv15785842
Samples
Known GenesGNAQ
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)nsv4052412
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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