A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471452



Internal ID15558618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:124476371..124476955hg38UCSC Ensembl
Outerchr7:124116425..124117009hg19UCSC Ensembl
Outerchr7:123903661..123904245hg18UCSC Ensembl
Outerchr7:123710376..123710960hg17UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38585
hg19585
hg18585
hg17585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548316, nssv548317, nssv548318
SamplesNA18507, YH, JDW
Known Genes
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
CommentsLOC136157
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471452
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer