A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546988



Internal ID15987711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103586151..103763694hg38UCSC Ensembl
Innerchr1:104128773..104306316hg19UCSC Ensembl
Innerchr1:103930296..104107839hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38177544
hg19177544
hg18177544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv392n54
Supporting Variantsnssv719775
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546988
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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