A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4231006



Internal ID20084688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121834826..121850997hg38UCSC Ensembl
chr12:122272732..122288903hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3816172
hg1916172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15814218
Samples
Known GenesHPD
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)nsv4231006
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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