A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16005



Internal ID15488343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102546483..102550485hg38UCSC Ensembl
Outerchr7:102544550..102550849hg38UCSC Ensembl
Innerchr7:102186930..102190932hg19UCSC Ensembl
Outerchr7:102184997..102191296hg19UCSC Ensembl
Innerchr7:101973924..101978032hg18UCSC Ensembl
Outerchr7:101972002..101978395hg18UCSC Ensembl
Innerchr7:101780639..101784747hg17UCSC Ensembl
Outerchr7:101778717..101785110hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg386300
hg196300
hg186394
hg176394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18537
Known GenesPOLR2J3
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)nssv16005
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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