A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4150753



Internal ID20026937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57048202..57090202hg38UCSC Ensembl
chr6:56913000..56955000hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3842001
hg1942001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979017
Samples
Known GenesKIAA1586, ZNF451
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)nsv4150753
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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