A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv514589

Internal ID15466225
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:106915648..106918744hg38UCSC Ensembl
Innerchr11:106786374..106789470hg19UCSC Ensembl
Innerchr11:106291584..106294680hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2784355, nssv2778849, nssv2782303, nssv2783042, nssv2783660, nssv2786713, nssv2787310, nssv2780318, nssv2780442, nssv2787204, nssv2781238, nssv2779668, nssv2779792, nssv2783254, nssv2786531, nssv2781334, nssv2783198, nssv2779927, nssv2786258, nssv2786834, nssv2781111, nssv2786953, nssv2782193, nssv2783489, nssv2779184, nssv2780168, nssv2784055, nssv2782524, nssv2783317, nssv2781280, nssv2778557, nssv2788060, nssv2780127, nssv2781411, nssv2784116, nssv2788179, nssv2782618, nssv2783890, nssv2779487, nssv2786067, nssv2786770, nssv2785570, nssv2779370, nssv2780363, nssv2783228, nssv2784811, nssv2781987, nssv2788351, nssv2788371, nssv2784719, nssv2780420, nssv2785564, nssv2780694, nssv2780886, nssv2787121, nssv2782073, nssv2785351, nssv2785430, nssv2785742, nssv2779452, nssv2784054, nssv2782563, nssv2783061, nssv2780077, nssv2780236, nssv2780920, nssv2787263, nssv2787241, nssv2779232, nssv2780908, nssv2782596, nssv2786473, nssv2787446, nssv2783082, nssv2778512, nssv2782728, nssv2786561, nssv2787278, nssv2783435, nssv2785394, nssv2784487, nssv2783557, nssv2780792, nssv2784069, nssv2787210, nssv2784043, nssv2782781, nssv2784978, nssv2778637, nssv2786054, nssv2782637, nssv2783584, nssv2782410, nssv2778984, nssv2782364, nssv2779292, nssv2780612, nssv2779954, nssv2787794, nssv2782773, nssv2785148, nssv2786346, nssv2782615, nssv2783311, nssv2779701, nssv2787530, nssv2785350, nssv2788475, nssv2779226, nssv2784446, nssv2778808, nssv2785117, nssv2781110, nssv2782150, nssv2785313, nssv2779053, nssv2788398, nssv2779405, nssv2781556, nssv2787793, nssv2778968
SamplesNA10859, NA19142, NA19012, NA11881, NA18621, NA12043, NA12489, NA12750, NA10843, NA21490, NA12344, NA12286, NA21317, NA21580, NA12801, NA18952, NA07056, NA12875, NA21599, NA19209, NA12347, NA19003, NA12264, NA18859, NA12340, NA18545, NA12813, NA18953, NA18969, NA18972, NA19150, NA18573, NA18608, NA07019, NA07348, NA12058, NA18860, NA18994, NA12776, NA07051, NA21312, NA21361, NA18965, NA21310, NA21489, NA19236, NA12287, NA19151, NA18949, NA10863, NA11882, NA11919, NA12763, NA19211, NA18998, NA18992, NA11839, NA12753, NA12383, NA18635, NA12155, NA18576, NA18563, NA07357, NA12343, NA18991, NA12814, NA12740, NA18592, NA18959, NA18609, NA21477, NA18547, NA11843, NA21523, NA12829, NA18593, NA19181, NA12830, NA12234, NA12145, NA12716, NA18620, NA18633, NA12778, NA18968, NA06986, NA12275, NA18558, NA10850, NA10856, NA11892, NA18564, NA18961, NA18997, NA10836, NA21475, NA18974, NA19141, NA21313, NA12891, NA18582, NA18999, NA18552, NA19201, NA21601, NA12375, NA21360, NA18971, NA11830, NA21366, NA12546, NA18611, NA11829, NA12717, NA18908, NA06994, NA12274, NA18555, NA21365, NA12775
Known GenesGUCY1A2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Pubmed ID21397061
Accession Number(s)nsv514589
Sample Size2366
Observed Gain0
Observed Loss121
Observed Complex0

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