A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18237568



Internal ID20804608
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 StatusS
Merged Variantsnsv6592963
Supporting Variants
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)nssv18237568
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00026


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