A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024105



Internal ID19113322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39372652..39531593hg38UCSC Ensembl
Innerchr8:39230171..39389112hg19UCSC Ensembl
Innerchr8:39349328..39508269hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38158942
hg19158942
hg18158942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3683816, nssv3683828, nssv3683799, nssv3683839, nssv3683844, nssv3683822, nssv3683841, nssv3683836, nssv3683831, nssv3683795, nssv3683847, nssv3683791, nssv3683798, nssv3683792, nssv3760557, nssv3683818, nssv3683819, nssv3683812, nssv3683805, nssv3683817, nssv3683776, nssv3760556, nssv3683801, nssv3683827, nssv3683793, nssv3683840, nssv3683802, nssv3683843, nssv3683810, nssv3683842, nssv3683849, nssv3683785, nssv3683824, nssv3683815, nssv3683834, nssv3760558, nssv3683807, nssv3683850, nssv3683794, nssv3683787, nssv3683800, nssv3683790, nssv3683830, nssv3683826, nssv3683814, nssv3683811, nssv3683803, nssv3683835, nssv3683820, nssv3683777, nssv3683788, nssv3683845, nssv3683838, nssv3683783, nssv3683809, nssv3683781, nssv3683782, nssv3683780, nssv3683832, nssv3683821, nssv3683778, nssv3683825, nssv3683833, nssv3760560, nssv3683789, nssv3683837, nssv3683813, nssv3683786, nssv3683848, nssv3683779, nssv3683846, nssv3683823, nssv3683804, nssv3683806, nssv3683784, nssv3683829, nssv3683796, nssv3760559, nssv3683808, nssv3683797
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024105
Frequency
Sample Size11257
Observed Gain80
Observed Loss0
Observed Complex0
Frequencyn/a


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