A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4161006



Internal ID20034386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81479080..81489276hg38UCSC Ensembl
chr8:82391315..82401511hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3810197
hg1910197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15932690
Samples
Known GenesFABP4
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)nsv4161006
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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