A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16853



Internal ID15492679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57926101..57939135hg38UCSC Ensembl
Outerchr6:57925050..57939515hg38UCSC Ensembl
Innerchr6:58252379..58265413hg19UCSC Ensembl
Outerchr6:58251328..58265793hg19UCSC Ensembl
Innerchr6:58360338..58373372hg18UCSC Ensembl
Outerchr6:58359287..58373752hg18UCSC Ensembl
Innerchr6:58360338..58373372hg17UCSC Ensembl
Outerchr6:58359287..58373752hg17UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3814466
hg1914466
hg1814466
hg1714466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7906
Supporting Variants
SamplesNA18972
Known GenesGUSBP4
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)nssv16853
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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