A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146669



Internal ID18853692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38194657..47593979hg38UCSC Ensembl
Outerchr17:36350713..45671345hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg389399323
hg199320633
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995825
SamplesKWB1
Known GenesAARSD1, ACBD4, ACLY, ADAM11, AOC2, AOC3, AOC4P, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ASB16, ASB16-AS1, ATP6V0A1, ATXN7L3, BECN1, BRCA1, C17orf104, C17orf105, C17orf53, C17orf96, C17orf98, C1QL1, CACNB1, CASC3, CCDC103, CCDC43, CCR10, CCR7, CD300LG, CDC27, CDC6, CDK12, CISD3, CNP, CNTD1, CNTNAP1, COA3, COASY, CRHR1, CRHR1-IT1, CSF3, CWC25, DBF4B, DCAKD, DHX58, DHX8, DNAJC7, DUSP3, EFCAB13, EFTUD2, EIF1, ERBB2, ETV4, EZH1, FAM134C, FAM171A2, FAM215A, FBXL20, FBXO47, FKBP10, FMNL1, FZD2, G6PC, G6PC3, GAST, GFAP, GHDC, GJC1, GJD3, GOSR2, GPATCH8, GPR179, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEXIM1, HEXIM2, HIGD1B, HSD17B1, HSPB9, IFI35, IGFBP4, IKZF3, ITGA2B, ITGB3, JUP, KANSL1, KANSL1-AS1, KAT2A, KCNH4, KIF18B, KLHL10, KLHL11, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT222, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT42P, KRT9, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP16-1, KRTAP17-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4, KRTAP29-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-12, KRTAP4-2, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9, LASP1, LEPREL4, LINC00671, LINC00672, LINC00854, LINC00910, LINC00974, LOC100131347, LOC100505782, LOC440434, LOC644172, LRRC37A, LRRC37A11P, LRRC37A2, LRRC37A4P, LRRC3C, LSM12, MAP3K14, MAP3K14-AS1, MAPT, MAPT-AS1, MAPT-IT1, MED1, MED24, MEOX1, MGC57346, MIEN1, MIR2117, MIR4315-1, MIR4315-2, MIR4726, MIR4727, MIR4728, MIR4734, MIR5010, MIR5089, MIR6510, MIR6779, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MLLT6, MLX, MPP2, MPP3, MRPL45, MRPL45P2, MSL1, MYL4, NAGLU, NAGS, NBR1, NBR2, NEUROD2, NKIRAS2, NMT1, NPEPPS, NR1D1, NSF, NSFP1, NT5C3B, ORMDL3, PCGF2, PGAP3, PIP4K2B, PLCD3, PLEKHH3, PLEKHM1, PLXDC1, PNMT, PPP1R1B, PPY, PSMB3, PSMC3IP, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRF, PYY, RAB5C, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RND2, RPL19, RPL23, RPL27, RPRML, RUNDC1, RUNDC3A, SLC25A39, SLC4A1, SMARCE1, SNORA21, SNORD124, SOCS7, SOST, SPATA32, SPPL2C, SRCIN1, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, TCAP, THRA, TMEM101, TMEM106A, TMEM99, TMUB2, TNS4, TOP2A, TTC25, TUBG1, TUBG2, UBTF, VAT1, VPS25, WIPF2, WNK4, WNT3, WNT9B, ZNF385C, ZPBP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146669
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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