A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548059



Internal ID15558442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248626178..248627128hg38UCSC Ensembl
Outerchr1:248789479..248790429hg19UCSC Ensembl
Outerchr1:246856102..246857052hg18UCSC Ensembl
Outerchr1:245115520..245116470hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38951
hg19951
hg18951
hg17951
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471355
Supporting Variants
SamplesYH
Known GenesOR2T11
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
CommentsOR2T11
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548059
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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