A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4524813



Internal ID20254932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31622385..32083888hg38UCSC Ensembl
chr7:31661999..32123500hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38461504
hg19461502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15920176
Samples
Known GenesCCDC129, PDE1C, PPP1R17
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)nsv4524813
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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