A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4128575



Internal ID20010970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149629797..150001191hg38UCSC Ensembl
chr5:149009360..149380754hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38371395
hg19371395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976974
Samples
Known GenesARHGEF37, HMGXB3, PDE6A, PPARGC1B, SLC26A2, TIGD6
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)nsv4128575
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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