A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033503



Internal ID19122724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12545643hg38UCSC Ensembl
Innerchr8:12232269..12403152hg19UCSC Ensembl
Innerchr8:12276640..12447523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38170884
hg19170884
hg18170884
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7055n100
Supporting Variantsnssv3754543, nssv3682660, nssv3682663, nssv3754542, nssv3682656, nssv3682665, nssv3682654, nssv3754545, nssv3682670, nssv3682655, nssv3754541, nssv3682659, nssv3682669, nssv3682668, nssv3682672, nssv3682661, nssv3754544, nssv3682662, nssv3682658, nssv3682664, nssv3754546, nssv3682666, nssv3682671, nssv3682673, nssv3682667, nssv3682674, nssv3682657
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033503
Frequency
Sample Size11257
Observed Gain21
Observed Loss6
Observed Complex0
Frequencyn/a


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