A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012026



Internal ID18754562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103621153..103765846hg38UCSC Ensembl
Innerchr1:104163775..104308468hg19UCSC Ensembl
Innerchr1:103965298..104109991hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38144694
hg19144694
hg18144694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv225n100
Supporting Variantsnssv3492197
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012026
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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