A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16649



Internal ID15496403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102666704..102669495hg38UCSC Ensembl
Outerchr7:102662667..102671227hg38UCSC Ensembl
Innerchr7:102307151..102309942hg19UCSC Ensembl
Outerchr7:102303114..102311674hg19UCSC Ensembl
Innerchr7:102094387..102097178hg18UCSC Ensembl
Outerchr7:102090350..102098910hg18UCSC Ensembl
Innerchr7:101901102..101903893hg17UCSC Ensembl
Outerchr7:101897065..101905625hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388561
hg198561
hg188561
hg178561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA19173
Known GenesPOLR2J2, POLR2J3
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv16649
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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