A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25169



Internal ID15833817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236962672..236969039hg38UCSC Ensembl
Outerchr1:236956392..236971133hg38UCSC Ensembl
Innerchr1:237125972..237132339hg19UCSC Ensembl
Outerchr1:237119692..237134433hg19UCSC Ensembl
Innerchr1:235192595..235198962hg18UCSC Ensembl
Outerchr1:235186315..235201056hg18UCSC Ensembl
Innerchr1:233452013..233458380hg17UCSC Ensembl
Outerchr1:233445733..233460474hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3814742
hg1914742
hg1814742
hg1714742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8935
Supporting Variants
SamplesNA18504
Known Genes
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)nssv25169
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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