A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983490



Internal ID18889918
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 StatusS
Merged Variantsnsv1125318
Supporting Variants
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)nssv3983490
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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