A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4320417



Internal ID19838283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54862923..58506441hg38UCSC Ensembl
chr18:52530154..56173673hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383643519
hg193643520
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091105
Samples
Known GenesALPK2, ATP8B1, BOD1L2, CCDC68, FECH, LINC-ROR, LOC100505474, LOC100505549, MIR122, MIR3591, MIR4529, NARS, NEDD4L, ONECUT2, RAB27B, ST8SIA3, TCF4, TXNL1, WDR7
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)nsv4320417
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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