A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548041



Internal ID15211242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152302175..152325203hg38UCSC Ensembl
Outerchr1:152274651..152297679hg19UCSC Ensembl
Outerchr1:150541275..150564303hg18UCSC Ensembl
Outerchr1:149087724..149110752hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3823029
hg1923029
hg1823029
hg1723029
Variant TypeCNV gain
Copy Number13
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471348
Supporting Variants
SamplesJDW
Known GenesFLG, FLG-AS1
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
CommentsFLG
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548041
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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