A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4322697



Internal ID19838425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92861951..94239942hg38UCSC Ensembl
chr14:93328296..94706279hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381377992
hg191377984
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091036
Samples
Known GenesASB2, BTBD7, C14orf142, CHGA, COX8C, DDX24, FAM181A, FAM181A-AS1, IFI27, IFI27L1, IFI27L2, ITPK1, ITPK1-AS1, LINC00521, MOAP1, OTUB2, PPP4R4, PRIMA1, TMEM251, UBR7, UNC79
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)nsv4322697
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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