A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16872



Internal ID15832680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:14173806..14183139hg38UCSC Ensembl
Outerchr7:14173181..14191079hg38UCSC Ensembl
Innerchr7:14213431..14222764hg19UCSC Ensembl
Outerchr7:14212806..14230704hg19UCSC Ensembl
Innerchr7:14179956..14189289hg18UCSC Ensembl
Outerchr7:14179331..14197229hg18UCSC Ensembl
Innerchr7:13986671..13996004hg17UCSC Ensembl
Outerchr7:13986046..14003944hg17UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3817899
hg1917899
hg1817899
hg1717899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8052
Supporting Variants
SamplesNA18502
Known GenesDGKB
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)nssv16872
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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