A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6592963



Internal ID20966034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86486184..95139000hg38UCSC Ensembl
chr14:86952528..95605337hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg388652817
hg198652810
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18237568
Samples
Known GenesASB2, ATXN3, BTBD7, C14orf142, C14orf159, CALM1, CATSPERB, CCDC88C, CHGA, COX8C, CPSF2, DDX24, DICER1, EFCAB11, EML5, FAM181A, FAM181A-AS1, FBLN5, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GOLGA5, GPR65, GPR68, GSC, IFI27, IFI27L1, IFI27L2, ITPK1, ITPK1-AS1, KCNK10, KCNK13, LGMN, LINC00521, LINC00642, LINC01146, LOC283585, MIR3173, MOAP1, NDUFB1, NRDE2, OTUB2, PPP4R4, PRIMA1, PSMC1, PTPN21, RIN3, RPS6KA5, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA13P, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SLC24A4, SMEK1, SNORA11B, SPATA7, TC2N, TDP1, TMEM251, TRIP11, TTC7B, TTC8, UBR7, UNC79, ZC3H14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6592963
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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