A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132230



Internal ID20013514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119553892..119756487hg38UCSC Ensembl
chr5:118889587..119092182hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38202596
hg19202596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15906008
Samples
Known GenesFAM170A
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)nsv4132230
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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