A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4552104



Internal ID19935293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58599127..58599128hg38UCSC Ensembl
chr11:58366600..58366601hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15996303
Samples
Known GenesZFP91, ZFP91-CNTF
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)nsv4552104
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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