A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548169



Internal ID15557934
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 Number5
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471399
Supporting Variants
SamplesJDW
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)nssv548169
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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