A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514646



Internal ID15466280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11021632..11022622hg38UCSC Ensembl
Innerchr12:11174231..11175221hg19UCSC Ensembl
Innerchr12:11065498..11066488hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38991
hg19991
hg18991
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2783298, nssv2779034, nssv2783697, nssv2783060, nssv2787483, nssv2784614, nssv2780769, nssv2782796, nssv2783486, nssv2779098, nssv2783379, nssv2780594, nssv2781788, nssv2786782, nssv2781045, nssv2786332, nssv2781626, nssv2779260, nssv2783829, nssv2788438, nssv2786093, nssv2783947, nssv2784907, nssv2782320, nssv2780359, nssv2784403, nssv2786902, nssv2783195, nssv2786023, nssv2785909, nssv2780870, nssv2786129, nssv2787523, nssv2785733, nssv2784490, nssv2783186, nssv2779165, nssv2784535, nssv2785175, nssv2784319, nssv2782014, nssv2780888, nssv2780029, nssv2781046, nssv2787943, nssv2785535, nssv2779349, nssv2788045, nssv2780214, nssv2787426, nssv2786333, nssv2778922, nssv2781323, nssv2788427, nssv2787730, nssv2787312, nssv2787834, nssv2781766, nssv2788238, nssv2781235, nssv2784808, nssv2780672, nssv2784836, nssv2782394, nssv2788352, nssv2779815
SamplesNA19237, NA21477, NA12842, NA18947, NA10851, NA18980, NA12236, NA12843, NA18999, NA18603, NA12004, NA12801, NA12248, NA12146, NA18969, NA12813, NA19005, NA12812, NA21359, NA12891, NA18558, NA11992, NA06993, NA11917, NA12005, NA19123, NA10850, NA12828, NA19007, NA10847, NA12489, NA18956, NA21439, NA12376, NA18572, NA10838, NA18566, NA11919, NA19000, NA12386, NA11840, NA18856, NA12249, NA12056, NA18532, NA12827, NA10852, NA18555, NA18974, NA18953, NA19003, NA18978, NA11882, NA10859, NA18992, NA10840, NA19193, NA07435, NA21404, NA10843, NA07349, NA18987, NA10860, NA07056, NA12154, NA18562
Known GenesPRH1-PRR4, TAS2R19
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514646
Frequency
Sample Size2366
Observed Gain65
Observed Loss1
Observed Complex0
Frequencyn/a


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