A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15869



Internal ID15496520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43962968..43979453hg38UCSC Ensembl
Outerchr7:43962595..43979883hg38UCSC Ensembl
Innerchr7:44002567..44019052hg19UCSC Ensembl
Outerchr7:44002194..44019482hg19UCSC Ensembl
Innerchr7:43969092..43985577hg18UCSC Ensembl
Outerchr7:43968719..43986007hg18UCSC Ensembl
Innerchr7:43775807..43792292hg17UCSC Ensembl
Outerchr7:43775434..43792722hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3817289
hg1917289
hg1817289
hg1717289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8082
Supporting Variants
SamplesNA19173
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)nssv15869
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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