A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4196611



Internal ID20406724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6532003..6536286hg38UCSC Ensembl
chr11:6553233..6557516hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg384284
hg194284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15798806
Samples
Known GenesDNHD1
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)nsv4196611
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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