A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548055



Internal ID15557942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196888082..196918632hg38UCSC Ensembl
Outerchr1:196857212..196887762hg19UCSC Ensembl
Outerchr1:195123835..195154385hg18UCSC Ensembl
Outerchr1:193588869..193619419hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3830551
hg1930551
hg1830551
hg1730551
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471354
Supporting Variants
SamplesJDW
Known GenesCFHR4
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
CommentsCFHR4
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548055
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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