A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4315070



Internal ID19837934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166462061..167518562hg38UCSC Ensembl
chr4:167383213..168439713hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381056502
hg191056501
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091338
Samples
Known GenesSPOCK3
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)nsv4315070
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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