A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16453



Internal ID15833304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47350816..47351351hg38UCSC Ensembl
Outerchr6:47350283..47352269hg38UCSC Ensembl
Innerchr6:47318552..47319087hg19UCSC Ensembl
Outerchr6:47318019..47320005hg19UCSC Ensembl
Innerchr6:47426511..47427046hg18UCSC Ensembl
Outerchr6:47425978..47427964hg18UCSC Ensembl
Innerchr6:47426511..47427046hg17UCSC Ensembl
Outerchr6:47425978..47427964hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381987
hg191987
hg181987
hg171987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7896
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)nssv16453
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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