A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11764



Internal ID15481981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12836155..12841893hg38UCSC Ensembl
Outerchr1:12835552..12842563hg38UCSC Ensembl
Innerchr1:12896008..12901746hg19UCSC Ensembl
Outerchr1:12895403..12902416hg19UCSC Ensembl
Innerchr1:12818595..12824333hg18UCSC Ensembl
Outerchr1:12817990..12825003hg18UCSC Ensembl
Innerchr1:12830274..12836012hg17UCSC Ensembl
Outerchr1:12829669..12836682hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387012
hg197014
hg187014
hg177014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA10839
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)nssv11764
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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