A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471399



Internal ID15558565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41232463..41233453hg38UCSC Ensembl
Outerchr17:39388715..39389705hg19UCSC Ensembl
Outerchr17:36642241..36643231hg18UCSC Ensembl
Outerchr17:36642241..36643231hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38991
hg19991
hg18991
hg17991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548171, nssv548169, nssv548170
SamplesNA18507, YH, JDW
Known GenesKRTAP9-3
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
CommentsKRTAP9-3
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471399
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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