A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4197580



Internal ID20060714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:40149914..40150836hg38UCSC Ensembl
chr11:40171464..40172386hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15800471
Samples
Known GenesLRRC4C
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)nsv4197580
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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