A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16680



Internal ID15497538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31403082..31413137hg38UCSC Ensembl
Outerchr6:31402757..31413980hg38UCSC Ensembl
Innerchr6:31370859..31380914hg19UCSC Ensembl
Outerchr6:31370534..31381757hg19UCSC Ensembl
Innerchr6:31478838..31488893hg18UCSC Ensembl
Outerchr6:31478513..31489736hg18UCSC Ensembl
Innerchr6:31478838..31488893hg17UCSC Ensembl
Outerchr6:31478513..31489736hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3811224
hg1911224
hg1811224
hg1711224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10820
Supporting Variants
SamplesNA19221
Known GenesMICA
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)nssv16680
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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