A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183642



Internal ID20397355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:91068228..91207066hg38UCSC Ensembl
chr9:93830510..93969348hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38138839
hg19138839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15935467
Samples
Known GenesLOC100129316
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)nsv4183642
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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