A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516485



Internal ID15443778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46109533..48312291hg19UCSC Ensembl
Innerchr10:45429539..47932297hg18UCSC Ensembl
Innerchr10:45429539..47932297hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg192202759
hg182502759
hg172502759
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690753, nssv663204, nssv657523, nssv657392, nssv660713, nssv684127, nssv676352, nssv684852, nssv673235, nssv681474, nssv653294, nssv652705, nssv673500, nssv668151, nssv681271, nssv690862, nssv676139, nssv670156, nssv672960, nssv689566, nssv657292, nssv686828, nssv662649, nssv691665, nssv671219, nssv656994, nssv656428, nssv681950, nssv690721, nssv691550, nssv661706, nssv658747, nssv674674, nssv671165, nssv677400, nssv683159, nssv688167, nssv672259, nssv692023, nssv658120, nssv686998, nssv676480, nssv667961, nssv660072, nssv683375, nssv679039, nssv680257, nssv689415, nssv664866, nssv676406, nssv660148, nssv657734, nssv677355, nssv664468, nssv678861, nssv653354, nssv673942, nssv690829, nssv686377, nssv654718, nssv665948, nssv654115, nssv693541, nssv656047, nssv665198, nssv682918, nssv655397, nssv653990, nssv665530, nssv652795, nssv657930, nssv659164, nssv674017, nssv672977, nssv654203, nssv682861, nssv666042, nssv690696, nssv669898, nssv667836, nssv680478, nssv652571, nssv680582, nssv685550, nssv681848, nssv676499, nssv686890, nssv673155, nssv675049, nssv663999, nssv687650, nssv656961, nssv683219, nssv667488, nssv652816, nssv680874, nssv655201, nssv665701, nssv651767, nssv686924, nssv655642, nssv678693, nssv674328, nssv665683, nssv664302, nssv676249, nssv661997, nssv688416, nssv667135, nssv658759, nssv678256, nssv669636, nssv704558, nssv678528, nssv667171, nssv673630, nssv653295, nssv663693, nssv661938, nssv661346, nssv674892, nssv655680, nssv663180, nssv688515, nssv659378, nssv687082, nssv679136, nssv669184, nssv660680, nssv685936, nssv679420, nssv665035, nssv687041, nssv675078, nssv687124, nssv666608, nssv685191, nssv668804, nssv652986, nssv666145, nssv659261, nssv652059, nssv691303, nssv661268, nssv683461, nssv662008, nssv672696, nssv672913, nssv656508, nssv688200, nssv655851, nssv677911, nssv677605, nssv692110, nssv689727, nssv660880, nssv688986, nssv679315, nssv688303, nssv652815, nssv692664, nssv655726, nssv678233, nssv680763, nssv653565, nssv668399, nssv658527, nssv668122, nssv671995, nssv657364, nssv665077, nssv684851, nssv665217, nssv652449, nssv653016, nssv691470, nssv660300, nssv684015, nssv678923, nssv675538, nssv660379, nssv664704, nssv678709, nssv667888, nssv677229, nssv656693, nssv654928, nssv663792, nssv658219, nssv675279, nssv661046, nssv675290, nssv668528, nssv687719, nssv686545, nssv668969, nssv659187, nssv693052, nssv692482, nssv690671, nssv688323, nssv663230, nssv660863, nssv684519, nssv652192, nssv671843, nssv662095, nssv653530, nssv657801, nssv655324, nssv674626, nssv680954, nssv657976
Samples
Known GenesAGAP4, AGAP9, ANTXRL, ANTXRLP1, ANXA8, ANXA8L1, ANXA8L2, BMS1P1, BMS1P2, BMS1P5, BMS1P6, CTSLP2, FAM21B, FAM21C, FAM25B, FAM25C, FAM25G, FAM35BP, FAM35DP, FRMPD2P1, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, PTPN20A, PTPN20B, SYT15, ZFAND4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516485
Frequency
Sample Size2026
Observed Gain169
Observed Loss44
Observed Complex0
Frequencyn/a


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