A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007099



Internal ID19096317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103556018..103616750hg38UCSC Ensembl
Innerchr1:104098640..104159372hg19UCSC Ensembl
Innerchr1:103900163..103960895hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3860733
hg1960733
hg1860733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215n100
Supporting Variantsnssv3699620, nssv3477226, nssv3475403, nssv3699619, nssv3699621, nssv3463807, nssv3472636
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)nsv1007099
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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