A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018335



Internal ID19107552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12505127hg38UCSC Ensembl
Innerchr8:12260915..12362636hg19UCSC Ensembl
Innerchr8:12305286..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38101722
hg19101722
hg18101722
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7068n100
Supporting Variantsnssv3665870, nssv3665872, nssv3665879, nssv3665841, nssv3665842, nssv3760128, nssv3665850, nssv3665844, nssv3665882, nssv3665880, nssv3665866, nssv3665849, nssv3760129, nssv3665848, nssv3665858, nssv3665865, nssv3665840, nssv3665881, nssv3665856, nssv3665854, nssv3665884, nssv3665869, nssv3665876, nssv3665864, nssv3665839, nssv3665867, nssv3665861, nssv3665847, nssv3665878, nssv3665868, nssv3665851, nssv3665860, nssv3665883, nssv3665853, nssv3665845, nssv3665871, nssv3665846, nssv3665855, nssv3665862, nssv3665874, nssv3665877, nssv3665843, nssv3760127, nssv3665857, nssv3665863, nssv3665852, nssv3665859, nssv3665873, nssv3665885, nssv3665875
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018335
Frequency
Sample Size11257
Observed Gain15
Observed Loss35
Observed Complex0
Frequencyn/a


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