A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029400



Internal ID19118619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389580..39529434hg38UCSC Ensembl
Innerchr8:39247099..39386953hg19UCSC Ensembl
Innerchr8:39366256..39506110hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38139855
hg19139855
hg18139855
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3689059, nssv3689064, nssv3689066, nssv3756716, nssv3689052, nssv3689051, nssv3689050, nssv3756706, nssv3689063, nssv3689055, nssv3689061, nssv3756725, nssv3756707, nssv3756723, nssv3756721, nssv3689054, nssv3689065, nssv3756726, nssv3689047, nssv3689046, nssv3756722, nssv3689068, nssv3756728, nssv3756720, nssv3756717, nssv3756712, nssv3689053, nssv3756714, nssv3756711, nssv3756727, nssv3689062, nssv3756718, nssv3689056, nssv3689060, nssv3689044, nssv3756704, nssv3756710, nssv3756709, nssv3689049, nssv3756705, nssv3689069, nssv3689058, nssv3756724, nssv3756713, nssv3756708, nssv3689045, nssv3756715, nssv3689067, nssv3756703, nssv3756719, nssv3689057, nssv3689048
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)nsv1029400
Frequency
Sample Size11257
Observed Gain28
Observed Loss24
Observed Complex0
Frequencyn/a


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