A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4096729



Internal ID20334619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15510170..15571887hg38UCSC Ensembl
chr4:15511793..15573510hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3861718
hg1961718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15888624
Samples
Known GenesCC2D2A
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)nsv4096729
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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