A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14819



Internal ID15843164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32660496..32660969hg38UCSC Ensembl
Outerchr6:32659963..32661338hg38UCSC Ensembl
Innerchr6:32628273..32628746hg19UCSC Ensembl
Outerchr6:32627740..32629115hg19UCSC Ensembl
Innerchr6:32736251..32736724hg18UCSC Ensembl
Outerchr6:32735718..32737093hg18UCSC Ensembl
Innerchr6:32736251..32736724hg17UCSC Ensembl
Outerchr6:32735718..32737093hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381376
hg191376
hg181376
hg171376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19173
Known GenesHLA-DQB1
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)nssv14819
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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