A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15886209



Internal ID19611463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129392157..129498157hg38UCSC Ensembl
chr3:129111000..129217000hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38106001
hg19106001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4104854
Supporting Variants
Samples
Known GenesEFCAB12, IFT122, MBD4, RPL32P3, SNORA7B
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)nssv15886209
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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