Variant DetailsVariant: nssv16911977 | Internal ID | 8739 | | Landmark | | | Location Information | | | Cytoband | 2p11.1 | | Allele length | | Assembly | Allele length | | hg38 | 819 | | hg19 | 819 |
| | Variant Type | CNV sva insertion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | S | | Merged Variants | nsv5554214 | | Supporting Variants | | | Samples | | | Known Genes | AAK1, ABCB11, ABCG5, ABCG8, ACMSD, ACOXL, ACTG2, ACTR1B, ACTR2, ACTR3, ACTR3BP2, ACVR1, ACVR1C, ACVR2A, ACYP2, ADD2, ADRA2B, AFF3, AFTPH, AGPS, AHCTF1P1, AHSA2, ALMS1, ALMS1P, AMER3, AMMECR1L, ANAPC1, ANAPC1P1, ANKRD20A8P, ANKRD23, ANKRD30BL, ANKRD36, ANKRD36B, ANKRD36BP2, ANKRD39, ANKRD53, ANTXR1, ANXA4, APLF, ARHGAP15, ARHGAP25, ARHGEF4, ARID5A, ARL5A, ARL6IP6, ASB3, ASPRV1, ASTL, ATF2, ATOH8, ATP5G3, ATP6V1B1, ATP6V1E2, AUP1, B3GALT1, B3GNT2, BAZ2B, BBS5, BCL11A, BCL2L11, BIN1, BMP10, BOLA3, BOLA3-AS1, BUB1, C1D, C1QL2, C2orf15, C2orf27A, C2orf27B, C2orf40, C2orf42, C2orf49, C2orf61, C2orf68, C2orf73, C2orf74, C2orf76, C2orf78, C2orf81, CACNB4, CALM2, CAMKMT, CAPG, CBWD2, CCDC104, CCDC115, CCDC138, CCDC142, CCDC148, CCDC148-AS1, CCDC173, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCNT2, CCNT2-AS1, CCT4, CCT7, CD207, CD302, CD8A, CD8B, CDCA7, CEP68, CERS6, CERS6-AS1, CFC1, CFC1B, CHAC2, CHCHD5, CHMP3, CHN1, CHRNA1, CHST10, CIAO1, CIR1, CKAP2L, CLASP1, CLEC4F, CLHC1, CNGA3, CNNM3, CNNM4, CNOT11, CNRIP1, CNTNAP5, COA5, COBLL1, COMMD1, COX5B, CREG2, CRIPT, CSRNP3, CTNNA2, CXCR4, CYBRD1, CYP26B1, CYP27C1, CYP4F30P, CYP4F62P, CYTIP, DAPL1, DARS, DBI, DBIL5P2, DCAF17, DCTN1, DCTN1-AS1, DDX11L2, DDX18, DGUOK, DGUOK-AS1, DHRS9, DLX1, DLX2, DNAH6, DOK1, DPP10, DPP10-AS1, DPP4, DQX1, DUSP11, DUSP2, DYNC1I2, DYSF, EDAR, EFEMP1, EGR4, EHBP1, EIF2AK3, EIF5B, ELMOD3, EML6, EMX1, EN1, EPAS1, EPB41L5, EPC2, EPCAM, ERCC3, ERLEC1, ERMN, ETAA1, EVA1A, EVX2, EXOC6B, FABP1, FAHD2A, FAHD2B, FAHD2CP, FAM136A, FAM138B, FAM161A, FAM168B, FAM178B, FAM95A, FANCL, FAP, FAR2P1, FAR2P2, FASTKD1, FBLN7, FBXO11, FBXO41, FBXO48, FER1L5, FHL2, FIGLA, FIGN, FLJ16341, FLJ42351, FMNL2, FOXD4L1, FOXI3, FOXN2, FSHR, FUNDC2P2, G6PC2, GAD1, GALNT13, GALNT3, GALNT5, GCA, GCC2, GCFC2, GCG, GFPT1, GGCX, GGT8P, GKN1, GKN2, GLI2, GMCL1, GNLY, GORASP2, GPAT2, GPD2, GPR148, GPR155, GPR17, GPR39, GPR45, GPR75, GPR75-ASB3, GRB14, GTDC1, GTF2A1L, GYPC, HAT1, HK2, HNMT, HNRNPA3, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HOXD-AS1, HOXD-AS2, HS6ST1, HTRA2, IFIH1, IL18R1, IL18RAP, IL1A, IL1B, IL1F10, IL1R1, IL1R2, IL1RL1, IL1RL2, IL1RN, IL36A, IL36B, IL36G, IL36RN, IL37, IMMT, IMP4, INHBB, INO80B, INO80B-WBP1, INPP4A, INSIG2, ITGA6, ITGB6, ITPRIPL1, IWS1, KANSL3, KCMF1, KCNH7, KCNIP3, KCNJ3, KCNK12, KDM3A, KIAA1211L, KIAA1715, KIAA1841, KIF5C, KLHL23, KLHL41, KRCC1, KYNU, LBX2, LBX2-AS1, LCT, LGALSL, LHCGR, LIMS1, LIMS2, LIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC00152, LINC00309, LINC00342, LINC01087, LINC01101, LINC01102, LINC01104, LINC01106, LINC01114, LINC01116, LINC01118, LINC01119, LINC01120, LINC01121, LINC01122, LINC01123, LINC01124, LINC01125, LINC01127, LIPT1, LMAN2L, LOC100130691, LOC100132215, LOC100133985, LOC100144595, LOC100287010, LOC100288570, LOC100499194, LOC100505984, LOC100506076, LOC100506123, LOC100506124, LOC100506142, LOC100506421, LOC100507334, LOC100507600, LOC100630918, LOC101805491, LOC150776, LOC1720, LOC284950, LOC285000, LOC285074, LOC285084, LOC339803, LOC339807, LOC389033, LOC400958, LOC401010, LOC440895, LOC440900, LOC440910, LOC442028, LOC644838, LOC646743, LOC654342, LOC90784, LONRF2, LOXL3, LRP1B, LRP2, LRPPRC, LRRTM1, LRRTM4, LY75, LY75-CD302, LYG1, LYG2, LYPD1, LYPD6, LYPD6B, M1AP, MAL, MALL, MAP3K19, MAP3K2, MAP4K4, MARCH7, MARCO, MAT2A, MBD5, MCEE, MCFD2, MCM6, MDH1, MED15P9, MEIS1, MEIS1-AS3, MERTK, METAP1D, METTL5, METTL8, MFSD9, MGAT4A, MGAT5, MIR10B, MIR1246, MIR128-1, MIR216A, MIR216B, MIR217, MIR3126, MIR3127, MIR3128, MIR3679, MIR3682, MIR4264, MIR4265, MIR4266, MIR4267, MIR4426, MIR4432, MIR4434, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4436A, MIR4436B1, MIR4436B2, MIR4444-1, MIR4772, MIR4773-1, MIR4773-2, MIR4774, MIR4778, MIR4779, MIR4780, MIR4782, MIR4783, MIR4784, MIR4785, MIR5000, MIR5192, MIR548AD, MIR559, MIR5696, MIR6071, MIR6512, MIR663B, MIR6888, MIR7853, MIR8080, MIR933, MITD1, MLK7-AS1, MMADHC, MOB1A, MOGS, MPHOSPH10, MRPL19, MRPL30, MRPL35, MRPL53, MRPS5, MRPS9, MSH2, MSH6, MTHFD2, MTIF2, MTX2, MXD1, MYO3B, MYO7B, MZT2A, MZT2B, NAGK, NAT8, NAT8B, NCAPH, NCK2, NCKAP5, NEB, NEURL3, NFE2L2, NFU1, NIFK, NIFK-AS1, NMI, NMS, NOSTRIN, NOTO, NPAS2, NPHP1, NR4A2, NRXN1, NXPH2, OLA1, OR7E91P, ORC4, OTX1, PABPC1P2, PAIP2B, PAPOLG, PAX8, PAX8-AS1, PCBP1, PCBP1-AS1, PCDP1, PCGF1, PCYOX1, PDCL3, PDE11A, PDK1, PELI1, PEX13, PHOSPHO2, PHOSPHO2-KLHL23, PIGF, PKP4, PLA2R1, PLEK, PLEKHB2, PLGLA, PLGLB1, PLGLB2, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POLR2D, POTEE, POTEF, POTEI, POTEJ, POTEKP, POU3F3, PPIG, PPM1B, PPP1R21, PPP3R1, PRADC1, PREPL, PRKCE, PROC, PROKR1, PROM2, PRORSD1P, PRPF40A, PSD4, PSMD14, PSME4, PTCD3, PTPN18, PTPN4, PUS10, R3HDM1, RAB11FIP5, RAB1A, RAB3GAP1, RAB6C, RAB6C-AS1, RABL2A, RALB, RANBP2, RAPGEF4, RAPGEF4-AS1, RBM43, RBMS1, REEP1, REG1A, REG1B, REG1P, REG3A, REG3G, REL, RETSAT, REV1, RFX8, RGPD1, RGPD2, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RGPD6, RGPD8, RHOQ, RIF1, RMND5A, RND3, RNF103, RNF103-CHMP3, RNF149, RNF181, RNU4ATAC, RNU6-81P, RPIA, RPL23AP32, RPL23AP7, RPL31, RPRM, RPS27A, RTKN, RTN4, SAP130, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SEMA4C, SEMA4F, SEPT10, SERTAD2, SFT2D3, SFTPB, SFXN5, SH2D6, SH3RF3, SH3RF3-AS1, SIX2, SIX3, SIX3-AS1, SLC1A4, SLC20A1, SLC25A12, SLC35F5, SLC38A11, SLC3A1, SLC4A10, SLC4A5, SLC5A7, SLC9A2, SLC9A4, SMEK2, SMPD4, SMYD1, SMYD5, SNAR-H, SNORA36C, SNORA70B, SNORA70F, SNORD89, SNORD94, SNRNP200, SNRNP27, SNRPG, SOCS5, SOWAHC, SP3, SP5, SP9, SPC25, SPOPL, SPR, SPRED2, SPTBN1, SRBD1, SSB, ST3GAL5, ST6GAL2, STAM2, STAMBP, STARD7, STARD7-AS1, STEAP3, STK39, STON1, STON1-GTF2A1L, SUCLG1, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4, TACR1, TANC1, TANK, TBC1D8, TBR1, TCF7L1, TEKT4, TET3, TEX261, TEX37, TEX41, TFCP2L1, TGFA, TGFBRAP1, TGOLN2, THNSL2, THSD7B, TIA1, TISP43, TLK1, TLX2, TMEM127, TMEM131, TMEM150A, TMEM163, TMEM17, TMEM177, TMEM182, TMEM185B, TMEM247, TMEM37, TMEM87B, TMSB10, TNFAIP6, TPRKB, TRABD2A, TRIM43, TRIM43B, TSGA10, TSN, TSPYL6, TTC21B, TTC21B-AS1, TTC30A, TTC30B, TTC31, TTC7A, TTL, TUBA3D, TUBA3E, TXNDC9, UBR3, UBXN4, UGGT1, UGP2, UNC50, UPP2, USP34, USP39, UXS1, VAMP5, VAMP8, VAX2, VPS54, VRK2, VWA3B, WASH2P, WBP1, WDPCP, WDR33, WDR54, WDR92, WDSUB1, WIPF1, WTH3DI, XIRP2, XPO1, YY1P2, ZAK, ZAP70, ZC3H6, ZC3H8, ZEB2, ZEB2-AS1, ZNF2, ZNF514, ZNF638, ZRANB3 | | Method | Sequencing | | Analysis | | | Platform | | | Comments | | | Reference | Byrska_Bishop_et_al_2022 | | Pubmed ID | 36055201 | | Accession Number(s) | nssv16911977
| | Frequency | | Sample Size | 3202 | | Observed Gain | 1 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | 0.000468 |
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