A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9739



Internal ID8814633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47901840..50143063hg38UCSC Ensembl
Outerchr19:48405097..50646320hg19UCSC Ensembl
Outerchr19:53096909..55338132hg18UCSC Ensembl
Outerchr19:53096909..55338132hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382241224
hg192241224
hg182241224
hg172241224
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26694, nssv26682, nssv24865, nssv25240, nssv24486, nssv26267, nssv24373, nssv24117, nssv25680, nssv26735, nssv22150, nssv26285, nssv25570, nssv22180, nssv24347, nssv27580, nssv24867, nssv22369, nssv24090, nssv22339, nssv25658, nssv28563, nssv25593, nssv27592, nssv28565, nssv27584, nssv27572, nssv26971, nssv25226, nssv24920, nssv24842, nssv27564, nssv25251, nssv25265, nssv24384, nssv26981, nssv26249, nssv24410, nssv28564
SamplesNA12802, NA18975, NA10839, NA18972, NA19144, NA07029, NA10863, NA12155, NA18563, NA12740, NA07048, NA18537, NA18572, NA18502, NA18504, NA18564, NA19221, NA18853
Known GenesADM5, AKT1S1, ALDH16A1, AP2A1, ATF5, BAX, BCAT2, BCL2L12, BSPH1, C19orf68, C19orf73, CA11, CABP5, CARD8, CCDC114, CCDC155, CD37, CGB, CGB1, CGB2, CGB5, CGB7, CGB8, CPT1C, CYTH2, DBP, DHDH, DKKL1, ELSPBP1, EMP3, FAM83E, FCGRT, FGF21, FLJ26850, FLT3LG, FTL, FUT1, FUT2, FUZ, GRIN2D, GRWD1, GYS1, HRC, HSD17B14, IL4I1, IRF3, IZUMO1, KCNA7, KCNJ14, KDELR1, LHB, LIG1, LIN7B, LMTK3, LOC100505812, LOC100507003, LOC101059948, MAMSTR, MED25, MIR150, MIR4324, MIR4749, MIR4750, MIR4751, MIR5088, MIR6798, MIR6799, MIR6800, NOSIP, NTF4, NTN5, NUCB1, NUP62, PIH1D1, PLA2G4C, PLEKHA4, PNKP, PPFIA3, PPP1R15A, PRMT1, PRR12, PRRG2, PTH2, PTOV1, PTOV1-AS1, RASIP1, RCN3, RPL13A, RPL13AP5, RPL18, RPS11, RRAS, RUVBL2, SCAF1, SEC1P, SIGLEC11, SIGLEC16, SLC17A7, SLC6A16, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-D, SNAR-G1, SNAR-G2, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNRNP70, SPACA4, SPHK2, SULT2B1, SYNGR4, TBC1D17, TEAD2, TMEM143, TRPM4, TSKS, TULP2, VRK3, ZNF114, ZNF473
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9739
Frequency
Sample Size31
Observed Gain2
Observed Loss18
Observed Complex0
Frequencyn/a


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