A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548247



Internal ID15558332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49683948..49688763hg38UCSC Ensembl
Outerchr3:49721381..49726196hg19UCSC Ensembl
Outerchr3:49696385..49701200hg18UCSC Ensembl
Outerchr3:49696385..49701200hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384816
hg194816
hg184816
hg174816
Variant TypeCNV gain
Copy Number11
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471425
Supporting Variants
SamplesYH
Known GenesMST1
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
CommentsMST1
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548247
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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