A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548107



Internal ID15211506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:22838660..22867719hg38UCSC Ensembl
Outerchr15:23005349..23034408hg19UCSC Ensembl
Outerchr15:20556790..20585849hg18UCSC Ensembl
Outerchr15:20556790..20585849hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3829060
hg1929060
hg1829060
hg1729060
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471377
Supporting Variants
SamplesNA18507
Known GenesNIPA2
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
CommentsNIPA2
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548107
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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