A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548310



Internal ID15558256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102473103..102478934hg38UCSC Ensembl
Outerchr7:102113550..102119381hg19UCSC Ensembl
Outerchr7:101900555..101906386hg18UCSC Ensembl
Outerchr7:101707270..101713101hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385832
hg195832
hg185832
hg175832
Variant TypeCNV gain
Copy Number9
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471450
Supporting Variants
SamplesNA18507
Known GenesLRWD1, POLR2J
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
CommentsPOLR2J
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548310
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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