A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060299



Internal ID19149518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21367302..21490993hg38UCSC Ensembl
Innerchr22:21721591..21845282hg19UCSC Ensembl
Innerchr22:20051591..20175282hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38123692
hg19123692
hg18123692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4489n100
Supporting Variantsnssv3731920, nssv3588753, nssv3588732, nssv3588752, nssv3731909, nssv3731912, nssv3588702, nssv3588713, nssv3588707, nssv3588721, nssv3588703, nssv3588691, nssv3731902, nssv3588766, nssv3588748, nssv3588740, nssv3588697, nssv3588739, nssv3588737, nssv3588709, nssv3588751, nssv3588734, nssv3731901, nssv3588719, nssv3588704, nssv3588726, nssv3588738, nssv3731908, nssv3731904, nssv3588742, nssv3588747, nssv3588724, nssv3588698, nssv3588733, nssv3588745, nssv3731921, nssv3588761, nssv3588711, nssv3588710, nssv3588757, nssv3731916, nssv3588708, nssv3588758, nssv3588695, nssv3588730, nssv3588727, nssv3731919, nssv3588744, nssv3588749, nssv3731910, nssv3588763, nssv3731906, nssv3588772, nssv3588770, nssv3588735, nssv3731913, nssv3731924, nssv3588684, nssv3588728, nssv3588756, nssv3588774, nssv3731915, nssv3588755, nssv3588746, nssv3588765, nssv3588759, nssv3731917, nssv3588750, nssv3588696, nssv3588692, nssv3588699, nssv3588715, nssv3731911, nssv3588722, nssv3588754, nssv3588725, nssv3588718, nssv3588714, nssv3588693, nssv3731903, nssv3588706, nssv3588700, nssv3588688, nssv3588689, nssv3731918, nssv3731907, nssv3588685, nssv3588762, nssv3588767, nssv3731914, nssv3588723, nssv3588690, nssv3588686, nssv3588768, nssv3588771, nssv3731922, nssv3588701, nssv3588736, nssv3588729, nssv3588687, nssv3588720, nssv3588694, nssv3588712, nssv3588760, nssv3588716, nssv3588769, nssv3588717, nssv3731905, nssv3588764, nssv3588773, nssv3588743, nssv3588731, nssv3731923, nssv3588741, nssv3588705
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060299
Frequency
Sample Size11257
Observed Gain115
Observed Loss0
Observed Complex0
Frequencyn/a


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