A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548039



Internal ID15211483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152212082..152224193hg38UCSC Ensembl
Outerchr1:152184558..152196669hg19UCSC Ensembl
Outerchr1:150451182..150463293hg18UCSC Ensembl
Outerchr1:148997631..149009742hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3812112
hg1912112
hg1812112
hg1712112
Variant TypeCNV gain
Copy Number8
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471347
Supporting Variants
SamplesNA18507
Known GenesHRNR
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
CommentsHRNR
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548039
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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