A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546953



Internal ID15987676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103560435..103719439hg38UCSC Ensembl
Innerchr1:104103057..104262061hg19UCSC Ensembl
Innerchr1:103904580..104063584hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38159005
hg19159005
hg18159005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv392n54
Supporting Variantsnssv719728
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546953
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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