A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9739



Internal ID5111523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48405097..50646320hg19UCSC Ensembl
Outerchr19:53096909..55338132hg18UCSC Ensembl
Outerchr19:53096909..55338132hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count519
Merged StatusM
Merged Variants
Supporting Variantsnssv26694, nssv26682, nssv24865, nssv25240, nssv24486, nssv26267, nssv24373, nssv24117, nssv25680, nssv26735, nssv22150, nssv26285, nssv25570, nssv22180, nssv24347, nssv24867, nssv27580, 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 GenesAKT1S1, ALDH16A1, AP2A1, ATF5, BAX, BCAT2, BCL2L12, BSPH1, C19orf73, C19orf76, 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, LOC100506033, LOC100507003, MAMSTR, MED25, MIR150, MIR4324, MIR4749, MIR4750, MIR4751, NOSIP, NTF4, NTN5, NUCB1, NUP62, PIH1D1, PLA2G4C, PLEKHA4, PNKP, PPFIA3, PPP1R15A, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RASIP1, RCN3, RPL13A, RPL13AP5, RPL18, RPS11, RRAS, RUVBL2, SCAF1, SEC1, 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
Method
AnalysisCNV regions were defined on the basis of the union of all overlapping CNVs across all 30 HapMap individuals (An additional CNV region, that was not listed in the original published dataset, has been defined to represent variant 311 in sample NA18563).
PlatformAgilent-015685 + 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