A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471345



Internal ID15211825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103617377..103625771hg38UCSC Ensembl
Outerchr1:104159999..104168393hg19UCSC Ensembl
Outerchr1:103961522..103969916hg18UCSC Ensembl
Outerchr1:103872020..103880414hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg388395
hg198395
hg188395
hg178395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548031, nssv548032, nssv548033
SamplesNA18507, JDW, YH
Known GenesAMY2A
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
CommentsAMY2A
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471345
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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