A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471346



Internal ID15558512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103749818..103758688hg38UCSC Ensembl
Outerchr1:104292440..104301310hg19UCSC Ensembl
Outerchr1:104093963..104102833hg18UCSC Ensembl
Outerchr1:104004461..104013331hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg388871
hg198871
hg188871
hg178871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548036, nssv548035, nssv548037
SamplesNA18507, YH, JDW
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsAMY1A
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471346
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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