A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4331387



Internal ID19839000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141082427..143124732hg38UCSC Ensembl
chr8:142092526..144206149hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382042306
hg192113624
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090440
Samples
Known GenesARC, BAI1, C8orf31, CDC42P3, CYP11B1, CYP11B2, DENND3, GML, GPR20, JRK, LINC00051, LOC100133669, LOC100288181, LOC731779, LY6D, LY6E, LY6K, LYNX1, LYPD2, MIR4472-1, MROH5, PSCA, PTP4A3, SLC45A4, SLURP1, THEM6, TSNARE1
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)nsv4331387
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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