A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4188734



Internal ID20054307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133331053..133344786hg38UCSC Ensembl
chr9:136197889..136211641hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3813734
hg1913753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15939833
Samples
Known GenesMED22, SURF6
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 ID12345678
Accession Number(s)nsv4188734
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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