A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925488



Internal ID17737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151447581..231256535hg38UCSC Ensembl
chr2:152304095..232121248hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3879808955
hg1979817154
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560580
Supporting Variants
Samples
Known GenesAAMP, ABCA12, ABCB11, ABCB6, ABI2, ACADL, ACSL3, ACVR1, ACVR1C, ADAM23, AGFG1, AGPS, AHCTF1P1, ALS2, ALS2CR11, ALS2CR12, ANKAR, ANKRD44, ANKZF1, AOX1, AOX2P, AP1S3, ARL5A, ARL6IP6, ARMC9, ARPC2, ASIC4, ASNSD1, ATF2, ATG9A, ATIC, ATP5G3, B3GALT1, BARD1, BAZ2B, BBS5, BCS1L, BMPR2, BOLL, BZW1, C2orf47, C2orf62, C2orf66, C2orf69, C2orf72, C2orf80, C2orf83, C2orf88, CAB39, CACNB4, CALCRL, CARF, CASP10, CASP8, CCDC108, CCDC140, CCDC141, CCDC148, CCDC148-AS1, CCDC150, CCDC173, CCL20, CCNYL1, CD28, CD302, CDCA7, CDK15, CDK5R2, CERKL, CERS6, CERS6-AS1, CFLAR, CFLAR-AS1, CHN1, CHPF, CHRNA1, CIR1, CLK1, CNPPD1, COBLL1, COL3A1, COL4A3, COL4A4, COL5A2, COQ10B, CPO, CPS1, CPS1-IT1, CREB1, CRYBA2, CRYGA, CRYGB, CRYGC, CRYGD, CSRNP3, CTDSP1, CTLA4, CUL3, CWC22, CXCR1, CXCR2, CXCR2P1, CYBRD1, CYP20A1, CYP27A1, CYTIP, DAPL1, DAW1, DCAF17, DES, DFNB59, DHRS9, DIRC1, DIRC3, DLX1, DLX2, DNAH7, DNAJB2, DNAJC10, DNER, DNPEP, DOCK10, DPP4, DUSP19, DYNC1I2, DYTN, EEF1B2, EPHA4, ERBB4, ERMN, EVX2, FAM117B, FAM124B, FAM126B, FAM134A, FAM171B, FAP, FARSB, FASTKD1, FASTKD2, FBXO36, FEV, FIGN, FKBP7, FMNL2, FN1, FRZB, FSIP2, FTCDNL1, FZD5, FZD7, G6PC2, GAD1, GALNT13, GALNT3, GALNT5, GCA, GCG, GCSHP3, GLB1L, GLS, GMPPA, GORASP2, GPBAR1, GPD2, GPR1, GPR155, GPR1-AS, GPR55, GRB14, GTF3C3, GULP1, HAT1, HECW2, HIBCH, HNRNPA3, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HOXD-AS1, HOXD-AS2, HSPD1, HSPE1, HSPE1-MOB4, HTR2B, ICA1L, ICOS, IDH1, IDH1-AS1, IFIH1, IGFBP2, IGFBP5, IHH, IKZF2, INHA, INO80D, INPP1, IRS1, ITGA4, ITGA6, ITGAV, ITGB6, ITM2C, KANSL1L, KCNE4, KCNH7, KCNJ3, KCTD18, KIAA1715, KLF7, KLHL23, KLHL41, LANCL1, LINC00607, LINC00608, LINC01116, LINC01124, LOC100129175, LOC100130451, LOC100130452, LOC100130691, LOC100144595, LOC100505984, LOC100506124, LOC100507140, LOC100507443, LOC100652824, LOC100996693, LOC151475, LOC151484, LOC200726, LOC285084, LOC646736, LOC654841, LRP2, LY75, LY75-CD302, MAP2, MARCH4, MARCH7, MARS2, MDH1B, METAP1D, METTL21A, METTL5, METTL8, MFF, MFSD6, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR153-1, MIR2355, MIR26B, MIR3128, MIR3129, MIR3130-1, MIR3130-2, MIR3131, MIR3132, MIR3606, MIR375, MIR4268, MIR4437, MIR4439, MIR4444-1, MIR4774, MIR4775, MIR4776-1, MIR4776-2, MIR4785, MIR548AR, MIR548F2, MIR548N, MIR561, MIR5702, MIR5703, MIR6512, MIR6513, MIR6809, MIR6810, MIR6888, MIR7845, MIR933, MLK7-AS1, MOB4, MOGAT1, MPP4, MREG, MRPL44, MSTN, MTX2, MYL1, MYO1B, MYO3B, NAB1, NABP1, NBEAL1, NCKAP1, NDUFB3, NDUFS1, NEB, NEUROD1, NFE2L2, NHEJ1, NIF3L1, NOP58, NOSTRIN, NR4A2, NRP2, NUP35, NYAP2, OBSL1, OLA1, ORC2, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PARD3B, PAX3, PCGEM1, PDE11A, PDE1A, PDK1, PECR, PGAP1, PHOSPHO2, PHOSPHO2-KLHL23, PID1, PIKFYVE, PKI55, PKP4, PLA2R1, PLCD4, PLCL1, PLEKHA3, PLEKHM3, PMS1, PNKD, PPIG, PPIL3, PPP1R1C, PRKAG3, PRKRA, PRPF40A, PSMD1, PSMD14, PTH2R, PTPRN, RAPGEF4, RAPGEF4-AS1, RAPH1, RBM45, RBMS1, RESP18, RFTN2, RHBDD1, RIF1, RNF25, RPE, RPL37A, RPRM, RQCD1, RUFY4, SATB2, SATB2-AS1, SCG2, SCHLAP1, SCN1A, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SDPR, SERPINE2, SESTD1, SF3B1, SGOL2, SGPP2, SLC11A1, SLC16A14, SLC19A3, SLC23A3, SLC25A12, SLC38A11, SLC39A10, SLC40A1, SLC4A10, SLC4A3, SMARCAL1, SNORA41, SNORA70F, SNORD11, SNORD11B, SNORD51, SNORD70, SP100, SP110, SP140, SP140L, SP3, SP5, SP9, SPAG16, SPATA3, SPATA3-AS1, SPATS2L, SPC25, SPEG, SPHKAP, SSB, SSFA2, STAM2, STAT1, STAT4, STK11IP, STK16, STK17B, STK36, STK39, STRADB, SUMO1, TANC1, TANK, TBR1, TFPI, TLK1, TM4SF20, TMBIM1, TMEFF2, TMEM169, TMEM194B, TMEM198, TMEM237, TNP1, TNS1, TRAK2, TRIP12, TTC21B, TTC21B-AS1, TTC30A, TTC30B, TTLL4, TTN, TTN-AS1, TUBA4A, TUBA4B, TYW5, UBE2E3, UBR3, UNC80, UPP2, USP37, VIL1, VWC2L, VWC2L-IT1, WDFY1, WDR12, WDR75, WDSUB1, WIPF1, WNT10A, WNT6, XIRP2, XRCC5, ZAK, ZC3H15, ZDBF2, ZFAND2B, ZNF142, ZNF385B, ZNF804A, ZSWIM2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925488
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer