A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974599



Internal ID20046539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6437002..6649664hg38UCSC Ensembl
chr4:6438729..6651391hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38212663
hg19212663
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4093566
Supporting Variants
Samples
Known GenesMAN2B2, MRFAP1, PPP2R2C
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)nssv15974599
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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