A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4205209



Internal ID20066250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9971490..10385563hg38UCSC Ensembl
chr12:10124089..10538162hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38414074
hg19414074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954431
Samples
Known GenesCLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC7A, CLEC9A, GABARAPL1, KLRC4-KLRK1, KLRD1, KLRK1, OLR1, TMEM52B
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)nsv4205209
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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