A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033469



Internal ID19122690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39372652..39522136hg38UCSC Ensembl
Innerchr8:39230171..39379655hg19UCSC Ensembl
Innerchr8:39349328..39498812hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38149485
hg19149485
hg18149485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3685694, nssv3686810, nssv3686809, nssv3686811, nssv3685681, nssv3685697, nssv3685683, nssv3686808, nssv3685691, nssv3685695, nssv3685692, nssv3685690, nssv3685678, nssv3685693, nssv3686812, nssv3685686, nssv3686806, nssv3685679, nssv3685680, nssv3685684, nssv3685682, nssv3686807, nssv3685689, nssv3685688, nssv3685687, nssv3685696, nssv3685685, nssv3686805, nssv3760508
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)nsv1033469
Frequency
Sample Size11257
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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