A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4212530



Internal ID20418242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100799150..100802406hg38UCSC Ensembl
chr12:101192928..101196184hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383257
hg193257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15811724
Samples
Known GenesANO4
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 ID32461652
Accession Number(s)nsv4212530
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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