A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14773



Internal ID15487097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21411..35703hg38UCSC Ensembl
Outerchr1:21064..35983hg38UCSC Ensembl
Innerchr1:21411..35703hg19UCSC Ensembl
Outerchr1:21064..35983hg19UCSC Ensembl
Innerchr1:11274..25566hg18UCSC Ensembl
Outerchr1:10927..25846hg18UCSC Ensembl
Innerchr1:11274..25566hg17UCSC Ensembl
Outerchr1:10927..25846hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3814920
hg1914920
hg1814920
hg1714920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA18504
Known GenesFAM138A, FAM138F, WASH7P
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)nssv14773
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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