A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16694



Internal ID15833980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32530401..32533763hg38UCSC Ensembl
Outerchr6:32530005..32534077hg38UCSC Ensembl
Innerchr6:32498178..32501540hg19UCSC Ensembl
Outerchr6:32497782..32501854hg19UCSC Ensembl
Innerchr6:32606156..32609518hg18UCSC Ensembl
Outerchr6:32605760..32609832hg18UCSC Ensembl
Innerchr6:32606156..32609518hg17UCSC Ensembl
Outerchr6:32605760..32609832hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg384073
hg194073
hg184073
hg174073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18517
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)nssv16694
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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