A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14768



Internal ID15484284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11931..87821hg38UCSC Ensembl
Outerchr1:10001..88143hg38UCSC Ensembl
Innerchr1:11931..87821hg19UCSC Ensembl
Outerchr1:10001..88143hg19UCSC Ensembl
Innerchr1:1794..77684hg18UCSC Ensembl
Outerchr1:1..78006hg18UCSC Ensembl
Innerchr1:1794..77684hg17UCSC Ensembl
Outerchr1:1..78006hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3878143
hg1978143
hg1878006
hg1778006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA12155
Known GenesDDX11L1, FAM138A, FAM138F, LOC100288778, MIR6859-1, MIR6859-2, OR4F5, 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)nssv14768
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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