A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995825



Internal ID18839946
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 StatusS
Merged Variantsnsv1146669
Supporting Variants
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)nssv3995825
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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