A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003223



Internal ID18745754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103621153hg38UCSC Ensembl
Innerchr1:104109226..104163775hg19UCSC Ensembl
Innerchr1:103910749..103965298hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3854550
hg1954550
hg1854550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215n100
Supporting Variantsnssv3479571, nssv3475229, nssv3699651, nssv3699654, nssv3472277, nssv3467863, nssv3480693, nssv3699657, nssv3699648, nssv3468599, nssv3480191, nssv3471676, nssv3699652, nssv3469271, nssv3475414, nssv3464667, nssv3469123, nssv3481756, nssv3477008, nssv3699653, nssv3699650, nssv3474201, nssv3699656, nssv3477198, nssv3467708, nssv3471809, nssv3465913, nssv3699655, nssv3699649, nssv3474547
Samples
Known GenesACTG1P4, AMY2A, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003223
Frequency
Sample Size29084
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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