A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13300



Internal ID15831648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31240816..31270175hg38UCSC Ensembl
Outerchr6:31240056..31270843hg38UCSC Ensembl
Innerchr6:31208593..31237952hg19UCSC Ensembl
Outerchr6:31207833..31238620hg19UCSC Ensembl
Innerchr6:31316572..31345931hg18UCSC Ensembl
Outerchr6:31315812..31346599hg18UCSC Ensembl
Innerchr6:31316572..31345931hg17UCSC Ensembl
Outerchr6:31315812..31346599hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3830788
hg1930788
hg1830788
hg1730788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10814
Supporting Variants
SamplesNA12802
Known GenesHLA-C
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)nssv13300
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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