A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712630



Internal ID136296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32109732..67925723hg38UCSC Ensembl
chr17:30436751..65921839hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3835815992
hg1935485089
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554090
Supporting Variants
Samples
Known GenesAA06, AARSD1, AATF, ABCC3, ABI3, ACACA, ACBD4, ACE, ACLY, ACSF2, ADAM11, AKAP1, AMZ2P1, ANKFN1, ANKRD40, AOC2, AOC3, AOC4P, AP2B1, APOH, APPBP2, ARGFXP2, ARHGAP23, ARHGAP27, ARL17A, ARL17B, ARL4D, ARL5C, ASB16, ASB16-AS1, ASIC2, ATP5G1, ATP6V0A1, ATXN7L3, AXIN2, B4GALNT2, BCAS3, BECN1, BPTF, BRCA1, BRIP1, BZRAP1, BZRAP1-AS1, C17orf102, C17orf104, C17orf105, C17orf112, C17orf47, C17orf50, C17orf53, C17orf64, C17orf66, C17orf67, C17orf72, C17orf75, C17orf78, C17orf82, C17orf96, C17orf98, C1QL1, CA10, CA4, CACNA1G, CACNA1G-AS1, CACNB1, CACNG1, CACNG4, CACNG5, CALCOCO2, CASC3, CBX1, CCDC103, CCDC182, CCDC43, CCDC47, CCL1, CCL11, CCL13, CCL14, CCL15, CCL15-CCL14, CCL16, CCL18, CCL2, CCL23, CCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, CCL5, CCL7, CCL8, CCR10, CCR7, CCT6B, CD300LG, CD79B, CDC27, CDC6, CDK12, CDK5R1, CDK5RAP3, CEP112, CEP95, CHAD, CISD3, CLTC, CNP, CNTD1, CNTNAP1, COA3, COASY, COIL, COL1A1, COPZ2, COX11, CRHR1, CRHR1-IT1, CSF3, CSH1, CSH2, CSHL1, CUEDC1, CWC25, CYB561, DBF4B, DCAF7, DCAKD, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX40, DHX58, DHX8, DLX3, DLX4, DNAJC7, DUSP14, DUSP3, DYNLL2, EFCAB13, EFCAB3, EFTUD2, EIF1, EME1, EPN3, EPX, ERBB2, ERN1, ETV4, EZH1, FAM117A, FAM134C, FAM171A2, FAM215A, FBXL20, FBXO47, FKBP10, FLJ40194, FLJ45513, FMNL1, FNDC8, FTSJ3, FZD2, G6PC, G6PC3, GAS2L2, GAST, GDPD1, GFAP, GGNBP2, GH1, GH2, GHDC, GIP, GJC1, GJD3, GNA13, GNGT2, GOSR2, GPATCH8, GPR179, GRB7, GRN, GSDMA, GSDMB, HAP1, HCRT, HDAC5, HEATR6, HELZ, HEXIM1, HEXIM2, HIGD1B, HILS1, HLF, HNF1B, HOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXB-AS1, HOXB-AS3, HSD17B1, HSF5, HSPB9, ICAM2, IFI35, IGF2BP1, IGFBP4, IKZF3, INTS2, ITGA2B, ITGA3, ITGB3, JUP, KANSL1, KANSL1-AS1, KAT2A, KAT7, KCNH4, KCNH6, KIF18B, KIF2B, KLHL10, KLHL11, KPNB1, 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, LHX1, LIG3, LIMD2, LINC00483, LINC00671, LINC00672, LINC00854, LINC00910, LINC00974, LOC100131347, LOC100288866, LOC100505782, LOC100506325, LOC146880, LOC284080, LOC440434, LOC644172, LOC645638, LOC653653, LOC729683, LPO, LRRC37A, LRRC37A11P, LRRC37A2, LRRC37A3, LRRC37A4P, LRRC3C, LRRC46, LRRC59, LSM12, LUC7L3, LYZL6, MAP3K14, MAP3K14-AS1, MAP3K3, MAPT, MAPT-AS1, MAPT-IT1, MARCH10, MBTD1, MED1, MED13, MED24, MEOX1, METTL2A, MGC57346, MIEN1, MILR1, MIR10A, MIR1203, MIR142, MIR152, MIR196A1, MIR21, MIR2117, MIR2909, MIR301A, MIR3064, MIR3185, MIR3614, MIR378J, MIR4315-1, MIR4315-2, MIR454, MIR4726, MIR4727, MIR4728, MIR4729, MIR4734, MIR4736, MIR4737, MIR5010, MIR5047, MIR5089, MIR548W, MIR6080, MIR6129, MIR6165, MIR632, MIR634, MIR6510, MIR6779, MIR6780A, MIR6781, MIR6782, MIR6783, MIR6784, MIR6866, MIR6867, MIR6884, MIR8059, MKS1, MLLT6, MLX, MMD, MMP28, MPO, MPP2, MPP3, MRC2, MRM1, MRPL10, MRPL27, MRPL45, MRPL45P2, MRPS23, MSI2, MSL1, MSX2P1, MTMR4, MTVR2, MYCBPAP, MYL4, MYO19, MYO1D, NACA2, NAGLU, NAGS, NBR1, NBR2, NEUROD2, NFE2L1, NGFR, NKIRAS2, NLE1, NME1, NME1-NME2, NME2, NMT1, NOG, NOL11, NPEPPS, NR1D1, NSF, NSFP1, NT5C3B, NXPH3, OR4D1, OR4D2, ORMDL3, OSBPL7, PCGF2, PCTP, PDK2, PECAM1, PEX12, PGAP3, PHB, PHOSPHO1, PIGW, PIP4K2B, PITPNC1, PLCD3, PLEKHH3, PLEKHM1, PLEKHM1P, PLXDC1, PNMT, PNPO, POLG2, PPM1D, PPM1E, PPP1R1B, PPP1R9B, PPY, PRAC1, PRAC2, PRKCA, PRR11, PRR15L, PSMB3, PSMC3IP, PSMC5, PSMD11, PSMD12, PSMD3, PSME3, PTGES3L, PTGES3L-AARSD1, PTRF, PTRH2, PYY, RAB5C, RAD51C, RAD51D, RAD51L3-RFFL, RAMP2, RAMP2-AS1, RAPGEFL1, RARA, RASL10B, RDM1, RFFL, RGS9, RHBDL3, RHOT1, RND2, RNF126P1, RNF43, RNFT1, RPL19, RPL23, RPL27, RPRML, RPS6KB1, RSAD1, RUNDC1, RUNDC3A, SAMD14, SCARNA20, SCN4A, SCPEP1, SCRN2, SEPT4, SGCA, SKA2, SKAP1, SLC25A39, SLC35B1, SLC35G3, SLC4A1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMARCD2, SMARCE1, SMG8, SMURF2, SNF8, SNORA21, SNORA38B, SNORA76, SNORD104, SNORD124, SNORD7, SNX11, SOCS7, SOST, SP2, SP6, SPACA3, SPAG9, SPATA20, SPATA32, SPOP, SPPL2C, SRCIN1, SRSF1, STAC2, STARD3, STAT3, STAT5A, STAT5B, STH, STRADA, STXBP4, SUPT4H1, SYNRG, TAC4, TACO1, TADA2A, TAF15, TANC2, TBC1D3, TBC1D3B, TBC1D3C, TBC1D3F, TBC1D3G, TBC1D3H, TBC1D3P1-DHX40P1, TBC1D3P2, TBKBP1, TBX2, TBX21, TBX4, TCAM1P, TCAP, TEX14, TEX2, THRA, TLK2, TMEM100, TMEM101, TMEM106A, TMEM132E, TMEM92, TMEM98, TMEM99, TMUB2, TNS4, TOB1, TOB1-AS1, TOM1L1, TOP2A, TRIM25, TRIM37, TTC25, TTLL6, TUBD1, TUBG1, TUBG2, UBE2Z, UBTF, UNC45B, USP32, UTP18, VAT1, VEZF1, VMP1, VPS25, WFIKKN2, WIPF2, WNK4, WNT3, WNT9B, XYLT2, YPEL2, YWHAEP7, ZNF207, ZNF385C, ZNF652, ZNF830, ZNHIT3, ZPBP2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712630
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.228224


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