A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890



Internal ID15844123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32521737..32522089hg38UCSC Ensembl
Outerchr6:32521226..32522378hg38UCSC Ensembl
Innerchr6:32489514..32489866hg19UCSC Ensembl
Outerchr6:32489003..32490155hg19UCSC Ensembl
Innerchr6:32597492..32597844hg18UCSC Ensembl
Outerchr6:32596981..32598133hg18UCSC Ensembl
Innerchr6:32597492..32597844hg17UCSC Ensembl
Outerchr6:32596981..32598133hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381153
hg191153
hg181153
hg171153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19221
Known GenesHLA-DRB5
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)nssv16890
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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