A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4212263



Internal ID20071357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62427367..62437526hg38UCSC Ensembl
chr11:62194839..62204998hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3810160
hg1910160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15801929
Samples
Known GenesAHNAK
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)nsv4212263
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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