A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548363



Internal ID15558274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:65282103..65285209hg38UCSC Ensembl
Outerchr9:70426625..70429731hg19UCSC Ensembl
Outerchr9:69666445..69669551hg18UCSC Ensembl
Outerchr9:67935112..67938218hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg383107
hg193107
hg183107
hg173107
Variant TypeCNV gain
Copy Number43
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471467
Supporting Variants
SamplesNA18507
Known GenesFOXD4L2, FOXD4L4
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
CommentsFOXD4L4
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548363
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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