A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002839



Internal ID19092056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103616750hg38UCSC Ensembl
Innerchr1:104109226..104159372hg19UCSC Ensembl
Innerchr1:103910749..103960895hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3850147
hg1950147
hg1850147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215n100
Supporting Variantsnssv3469595, nssv3473208, nssv3475067, nssv3466739, nssv3469800, nssv3480710, nssv3482526, nssv3472123, nssv3475595, nssv3466223, nssv3482584, nssv3466992, nssv3468406, nssv3478002, nssv3467057, nssv3699647, nssv3468460, nssv3466071, nssv3477167, nssv3475534, nssv3699645, nssv3468751, nssv3464566, nssv3465521, nssv3699646, nssv3465557, nssv3462835, nssv3480194, nssv3699642, nssv3462976, nssv3699643, nssv3467386, nssv3482535, nssv3474401, nssv3480320, nssv3470336, nssv3699644
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002839
Frequency
Sample Size11257
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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