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nstd42 (Sharp et al. 2008)

Organism:
Human
Study Type:
Case-Set
Submitter:
Evan Eichler
Description:
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. See Variant Summary counts for nstd42 in dbVar Variant Summary.
Publication(s):
Sharp et al. 2008

Detailed Information: Download 1 Variant Region, Download 11 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI35 (hg17)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000015.10Chr15111RemappedNC_000015.10
NT_187660.1Chr15|NT_187660.102RemappedNT_187660.1
NW_011332701.1Chr15|NW_011332701.102RemappedNW_011332701.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000015.9Chr15111RemappedNC_000015.9
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000015.8Chr15111SubmittedNC_000015.8

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000015.8Chr151010001163200
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000015.8Chr151010001163002

Samplesets

Number of Samplesets: 2

Sampleset ID:
1
Description:
Individuals with mental retardation and/or congentital abnormalities.
Size:
757
Organisms:
Homo sapiens
Sampleset Phenotype(s):
Developmental Disabilities
  • Download Samples as CSV file
    • Samples for sampleset 1 (displaying 100 of the 757 samples)
    Sample IDCell TypeSubject ID SexSubject Phenotype
    MR-CA_177Whole bloodMR-CA_177Developmental Disabilities
    MR-CA_139Whole bloodMR-CA_139Developmental Disabilities
    MR-CA_105Whole bloodMR-CA_105Developmental Disabilities
    MR-CA_114Whole bloodMR-CA_114Developmental Disabilities
    IMR338CcWhole bloodIMR338CcFemaleDevelopmental Disabilities
    MR-CA_154Whole bloodMR-CA_154Developmental Disabilities
    MR-CA_156Whole bloodMR-CA_156Developmental Disabilities
    MR-CA_131Whole bloodMR-CA_131Developmental Disabilities
    MR-CA_171Whole bloodMR-CA_171Developmental Disabilities
    MR-CA_162Whole bloodMR-CA_162Developmental Disabilities
    MR-CA_18Whole bloodMR-CA_18Developmental Disabilities
    MR-CA_159Whole bloodMR-CA_159Developmental Disabilities
    MR-CA_103Whole bloodMR-CA_103Developmental Disabilities
    MR-CA_124Whole bloodMR-CA_124Developmental Disabilities
    MR-CA_108Whole bloodMR-CA_108Developmental Disabilities
    543/06Whole blood543/06FemaleDevelopmental Disabilities
    MR-CA_133Whole bloodMR-CA_133Developmental Disabilities
    MR-CA_153Whole bloodMR-CA_153Developmental Disabilities
    MR-CA_14Whole bloodMR-CA_14Developmental Disabilities
    69/06Whole blood69/06FemaleDevelopmental Disabilities
    MR-CA_17Whole bloodMR-CA_17Developmental Disabilities
    MR-CA_137Whole bloodMR-CA_137Developmental Disabilities
    MR-CA_168Whole bloodMR-CA_168Developmental Disabilities
    MR-CA_136Whole bloodMR-CA_136Developmental Disabilities
    MR-CA_102Whole bloodMR-CA_102Developmental Disabilities
    MR-CA_161Whole bloodMR-CA_161Developmental Disabilities
    MR-CA_13Whole bloodMR-CA_13Developmental Disabilities
    MR-CA_181Whole bloodMR-CA_181Developmental Disabilities
    MR-CA_145Whole bloodMR-CA_145Developmental Disabilities
    MR-CA_123Whole bloodMR-CA_123Developmental Disabilities
    543/06FWhole blood543/06FMaleDevelopmental Disabilities
    MR-CA_182Whole bloodMR-CA_182Developmental Disabilities
    MR-CA_16Whole bloodMR-CA_16Developmental Disabilities
    MR-CA_106Whole bloodMR-CA_106Developmental Disabilities
    MR-CA_113Whole bloodMR-CA_113Developmental Disabilities
    MR-CA_10Whole bloodMR-CA_10Developmental Disabilities
    MR-CA_152Whole bloodMR-CA_152Developmental Disabilities
    MR-CA_116Whole bloodMR-CA_116Developmental Disabilities
    MR-CA_100Whole bloodMR-CA_100Developmental Disabilities
    MR-CA_1Whole bloodMR-CA_1Developmental Disabilities
    IMR338Whole bloodIMR338FemaleDevelopmental Disabilities
    MR-CA_170Whole bloodMR-CA_170Developmental Disabilities
    MR-CA_122Whole bloodMR-CA_122Developmental Disabilities
    MR-CA_120Whole bloodMR-CA_120Developmental Disabilities
    MR-CA_15Whole bloodMR-CA_15Developmental Disabilities
    MR-CA_135Whole bloodMR-CA_135Developmental Disabilities
    MR-CA_112Whole bloodMR-CA_112Developmental Disabilities
    IMR338MWhole bloodIMR338MFemaleDevelopmental Disabilities
    MR-CA_180Whole bloodMR-CA_180Developmental Disabilities
    MR-CA_134Whole bloodMR-CA_134Developmental Disabilities
    MR-CA_140Whole bloodMR-CA_140Developmental Disabilities
    MR-CA_117Whole bloodMR-CA_117Developmental Disabilities
    MR-CA_126Whole bloodMR-CA_126Developmental Disabilities
    MR-CA_144Whole bloodMR-CA_144Developmental Disabilities
    MR-CA_173Whole bloodMR-CA_173Developmental Disabilities
    MR-CA_155Whole bloodMR-CA_155Developmental Disabilities
    MR-CA_163Whole bloodMR-CA_163Developmental Disabilities
    MR-CA_121Whole bloodMR-CA_121Developmental Disabilities
    MR-CA_115Whole bloodMR-CA_115Developmental Disabilities
    MR-CA_149Whole bloodMR-CA_149Developmental Disabilities
    MR-CA_178Whole bloodMR-CA_178Developmental Disabilities
    MR-CA_175Whole bloodMR-CA_175Developmental Disabilities
    MR-CA_129Whole bloodMR-CA_129Developmental Disabilities
    MR-CA_157Whole bloodMR-CA_157Developmental Disabilities
    MR-CA_118Whole bloodMR-CA_118Developmental Disabilities
    MR-CA_179Whole bloodMR-CA_179Developmental Disabilities
    MR-CA_150Whole bloodMR-CA_150Developmental Disabilities
    MR-CA_12Whole bloodMR-CA_12Developmental Disabilities
    MR-CA_109Whole bloodMR-CA_109Developmental Disabilities
    MR-CA_110Whole bloodMR-CA_110Developmental Disabilities
    MR-CA_104Whole bloodMR-CA_104Developmental Disabilities
    MR-CA_151Whole bloodMR-CA_151Developmental Disabilities
    MR-CA_160Whole bloodMR-CA_160Developmental Disabilities
    MR-CA_143Whole bloodMR-CA_143Developmental Disabilities
    MR-CA_174Whole bloodMR-CA_174Developmental Disabilities
    MR-CA_127Whole bloodMR-CA_127Developmental Disabilities
    MR-CA_146Whole bloodMR-CA_146Developmental Disabilities
    MR-CA_176Whole bloodMR-CA_176Developmental Disabilities
    MR-CA_158Whole bloodMR-CA_158Developmental Disabilities
    MR-CA_130Whole bloodMR-CA_130Developmental Disabilities
    MR-CA_165Whole bloodMR-CA_165Developmental Disabilities
    MR-CA_147Whole bloodMR-CA_147Developmental Disabilities
    MR-CA_107Whole bloodMR-CA_107Developmental Disabilities
    MR-CA_11Whole bloodMR-CA_11Developmental Disabilities
    MR-CA_148Whole bloodMR-CA_148Developmental Disabilities
    MR-CA_167Whole bloodMR-CA_167Developmental Disabilities
    MR-CA_111Whole bloodMR-CA_111Developmental Disabilities
    MR-CA_141Whole bloodMR-CA_141Developmental Disabilities
    MR-CA_132Whole bloodMR-CA_132Developmental Disabilities
    MR-CA_172Whole bloodMR-CA_172Developmental Disabilities
    MR-CA_169Whole bloodMR-CA_169Developmental Disabilities
    MR-CA_101Whole bloodMR-CA_101Developmental Disabilities
    MR-CA_138Whole bloodMR-CA_138Developmental Disabilities
    MR-CA_166Whole bloodMR-CA_166Developmental Disabilities
    MR-CA_142Whole bloodMR-CA_142Developmental Disabilities
    MR-CA_164Whole bloodMR-CA_164Developmental Disabilities
    MR-CA_119Whole bloodMR-CA_119Developmental Disabilities
    MR-CA_125Whole bloodMR-CA_125Developmental Disabilities
    MR-CA_128Whole bloodMR-CA_128Developmental Disabilities
    02961Whole blood02961FemaleDevelopmental Disabilities
    Sampleset ID:
    2
    Description:
    Individuals with mental retardation of unknown etiology from the USA.
    Size:
    1,040
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    Developmental Disabilities
  • Download Samples as CSV file
    • Samples for sampleset 2 (displaying 100 of the 1040 samples)
    Sample IDCell TypeSubject ID SexSubject Phenotype
    GGC_137Whole bloodGGC_137Developmental Disabilities
    GGC_1026Whole bloodGGC_1026Developmental Disabilities
    GGC_1019Whole bloodGGC_1019Developmental Disabilities
    GGC_1032Whole bloodGGC_1032Developmental Disabilities
    GGC_1017Whole bloodGGC_1017Developmental Disabilities
    GGC_1Whole bloodGGC_1Developmental Disabilities
    GGC_151Whole bloodGGC_151Developmental Disabilities
    GGC_135Whole bloodGGC_135Developmental Disabilities
    GGC_117Whole bloodGGC_117Developmental Disabilities
    GGC_1036Whole bloodGGC_1036Developmental Disabilities
    GGC_1023Whole bloodGGC_1023Developmental Disabilities
    GGC_1022Whole bloodGGC_1022Developmental Disabilities
    GGC_1028Whole bloodGGC_1028Developmental Disabilities
    GGC_1021Whole bloodGGC_1021Developmental Disabilities
    GGC_101Whole bloodGGC_101Developmental Disabilities
    GGC_133Whole bloodGGC_133Developmental Disabilities
    GGC_131Whole bloodGGC_131Developmental Disabilities
    GGC_1020Whole bloodGGC_1020Developmental Disabilities
    GGC_1003Whole bloodGGC_1003Developmental Disabilities
    GGC_1012Whole bloodGGC_1012Developmental Disabilities
    GGC_138Whole bloodGGC_138Developmental Disabilities
    GGC_1016Whole bloodGGC_1016Developmental Disabilities
    GGC_140Whole bloodGGC_140Developmental Disabilities
    GGC_12Whole bloodGGC_12Developmental Disabilities
    GGC_108Whole bloodGGC_108Developmental Disabilities
    GGC_1013Whole bloodGGC_1013Developmental Disabilities
    GGC_1031Whole bloodGGC_1031Developmental Disabilities
    GGC_13Whole bloodGGC_13Developmental Disabilities
    GGC_116Whole bloodGGC_116Developmental Disabilities
    GGC_1008Whole bloodGGC_1008Developmental Disabilities
    GGC_14Whole bloodGGC_14Developmental Disabilities
    GGC_109Whole bloodGGC_109Developmental Disabilities
    GGC_1009Whole bloodGGC_1009Developmental Disabilities
    GGC_1000Whole bloodGGC_1000Developmental Disabilities
    GGC_143Whole bloodGGC_143Developmental Disabilities
    GGC_111Whole bloodGGC_111Developmental Disabilities
    GGC_144Whole bloodGGC_144Developmental Disabilities
    GGC_100Whole bloodGGC_100Developmental Disabilities
    GGC_141Whole bloodGGC_141Developmental Disabilities
    GGC_125Whole bloodGGC_125Developmental Disabilities
    GGC_1030Whole bloodGGC_1030Developmental Disabilities
    GGC_134Whole bloodGGC_134Developmental Disabilities
    GGC_1007Whole bloodGGC_1007Developmental Disabilities
    GGC_1006Whole bloodGGC_1006Developmental Disabilities
    GGC_1018Whole bloodGGC_1018Developmental Disabilities
    GGC_136Whole bloodGGC_136Developmental Disabilities
    CMS7833Whole bloodCMS7833FemaleDevelopmental Disabilities
    GGC_126Whole bloodGGC_126Developmental Disabilities
    GGC_1024Whole bloodGGC_1024Developmental Disabilities
    CMS5826Whole bloodCMS5826MaleDevelopmental Disabilities
    GGC_120Whole bloodGGC_120Developmental Disabilities
    GGC_142Whole bloodGGC_142Developmental Disabilities
    GGC_115Whole bloodGGC_115Developmental Disabilities
    GGC_1033Whole bloodGGC_1033Developmental Disabilities
    GGC_1011Whole bloodGGC_1011Developmental Disabilities
    GGC_104Whole bloodGGC_104Developmental Disabilities
    GGC_119Whole bloodGGC_119Developmental Disabilities
    GGC_1029Whole bloodGGC_1029Developmental Disabilities
    GGC_122Whole bloodGGC_122Developmental Disabilities
    GGC_10Whole bloodGGC_10Developmental Disabilities
    GGC_1027Whole bloodGGC_1027Developmental Disabilities
    GGC_15Whole bloodGGC_15Developmental Disabilities
    GGC_105Whole bloodGGC_105Developmental Disabilities
    CMS5803Whole bloodCMS5803MaleDevelopmental Disabilities
    GGC_112Whole bloodGGC_112Developmental Disabilities
    GGC_1001Whole bloodGGC_1001Developmental Disabilities
    GGC_113Whole bloodGGC_113Developmental Disabilities
    GGC_127Whole bloodGGC_127Developmental Disabilities
    GGC_103Whole bloodGGC_103Developmental Disabilities
    GGC_128Whole bloodGGC_128Developmental Disabilities
    GGC_145Whole bloodGGC_145Developmental Disabilities
    GGC_121Whole bloodGGC_121Developmental Disabilities
    GGC_11Whole bloodGGC_11Developmental Disabilities
    GGC_132Whole bloodGGC_132Developmental Disabilities
    GGC_1002Whole bloodGGC_1002Developmental Disabilities
    GGC_1005Whole bloodGGC_1005Developmental Disabilities
    GGC_149Whole bloodGGC_149Developmental Disabilities
    GGC_146Whole bloodGGC_146Developmental Disabilities
    GGC_124Whole bloodGGC_124Developmental Disabilities
    GGC_123Whole bloodGGC_123Developmental Disabilities
    GGC_1004Whole bloodGGC_1004Developmental Disabilities
    GGC_1010Whole bloodGGC_1010Developmental Disabilities
    GGC_118Whole bloodGGC_118Developmental Disabilities
    GGC_1035Whole bloodGGC_1035Developmental Disabilities
    GGC_102Whole bloodGGC_102Developmental Disabilities
    GGC_129Whole bloodGGC_129Developmental Disabilities
    CMS7906Whole bloodCMS7906FemaleDevelopmental Disabilities
    GGC_110Whole bloodGGC_110Developmental Disabilities
    GGC_1015Whole bloodGGC_1015Developmental Disabilities
    GGC_147Whole bloodGGC_147Developmental Disabilities
    GGC_106Whole bloodGGC_106Developmental Disabilities
    GGC_150Whole bloodGGC_150Developmental Disabilities
    GGC_148Whole bloodGGC_148Developmental Disabilities
    GGC_139Whole bloodGGC_139Developmental Disabilities
    GGC_1014Whole bloodGGC_1014Developmental Disabilities
    GGC_114Whole bloodGGC_114Developmental Disabilities
    GGC_1034Whole bloodGGC_1034Developmental Disabilities
    GGC_107Whole bloodGGC_107Developmental Disabilities
    GGC_130Whole bloodGGC_130Developmental Disabilities
    GGC_1025Whole bloodGGC_1025Developmental Disabilities

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsDataNumber of Variant Calls
    1DiscoveryOligo aCGHProbe signal intensityUniversity of Washington Human Itsara PWS 388K custom design array, version 1, University of Washington Human custom 2-plex 166K array for 15q13 region, A1 version 1, University of Washington Human custom 2-plex 166K array for 15q13 region, A2 subarray version 1, See more...(1)GEO7
    2DiscoveryqPCRProbe signal intensity4
    3ValidationBAC aCGHProbe signal intensity4
    4ValidationOligo aCGHProbe signal intensity4

    Validations

    Experiment IDMethodAnalysisNumber of Variant Calls Validated
    3BAC aCGHProbe signal intensity4
    4Oligo aCGHProbe signal intensity4
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