A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17293



Internal ID15486991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43962968..43976711hg38UCSC Ensembl
Outerchr7:43962595..43977357hg38UCSC Ensembl
Innerchr7:44002567..44016310hg19UCSC Ensembl
Outerchr7:44002194..44016956hg19UCSC Ensembl
Innerchr7:43969092..43982835hg18UCSC Ensembl
Outerchr7:43968719..43983481hg18UCSC Ensembl
Innerchr7:43775807..43789550hg17UCSC Ensembl
Outerchr7:43775434..43790196hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3814763
hg1914763
hg1814763
hg1714763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8082
Supporting Variants
SamplesNA18504
Known GenesPOLR2J4
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)nssv17293
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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