A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125318



Internal ID18905037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:33572470..38572088hg38UCSC Ensembl
Outerchr9:33572468..38572085hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg384999619
hg194999618
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983490
SamplesKWS2
Known GenesALDH1B1, ANKRD18A, ANKRD18B, ANXA2P2, ARHGEF39, ARID3C, ATP8B5P, C9orf131, C9orf24, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CLTA, CNTFR, CNTFR-AS1, CREB3, DCAF10, DCAF12, DCTN3, DNAI1, DNAJB5, ENHO, EXOSC3, FAM166B, FAM205A, FAM205B, FAM214B, FAM219A, FAM221B, FAM95C, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IGFBPL1, IL11RA, KIAA1045, KIAA1161, KIF24, LINC00950, LINC00961, LOC100506710, LOC101926900, LOC101929688, MELK, MIR4475, MIR4476, MIR4540, MIR4667, MIR6852, MIR6853, MSMP, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PIGO, POLR1E, PRSS3, PTENP1, PTENP1-AS, RECK, RGP1, RMRP, RNF38, RPP25L, RUSC2, SHB, SIGMAR1, SIT1, SLC25A51, SNORD121A, SNORD121B, SPAG8, STOML2, TESK1, TLN1, TMEM8B, TOMM5, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125318
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer