A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16869



Internal ID15484633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102610119..102610858hg38UCSC Ensembl
Outerchr7:102609005..102611947hg38UCSC Ensembl
Innerchr7:102250566..102251305hg19UCSC Ensembl
Outerchr7:102249452..102252394hg19UCSC Ensembl
Innerchr7:102037629..102038368hg18UCSC Ensembl
Outerchr7:102036515..102039614hg18UCSC Ensembl
Innerchr7:101844344..101845083hg17UCSC Ensembl
Outerchr7:101843230..101846329hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382943
hg192943
hg183100
hg173100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA12740
Known GenesPOLR2J3, RASA4, RASA4B
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)nssv16869
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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