A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16065



Internal ID15488092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102617741..102624152hg38UCSC Ensembl
Outerchr7:102616212..102624704hg38UCSC Ensembl
Innerchr7:102258188..102264599hg19UCSC Ensembl
Outerchr7:102256659..102265151hg19UCSC Ensembl
Innerchr7:102045412..102051825hg18UCSC Ensembl
Outerchr7:102043879..102052377hg18UCSC Ensembl
Innerchr7:101852127..101858540hg17UCSC Ensembl
Outerchr7:101850594..101859092hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388493
hg198493
hg188499
hg178499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18537
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)nssv16065
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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