A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15672



Internal ID15832513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32516141..32517424hg38UCSC Ensembl
Outerchr6:32515648..32518327hg38UCSC Ensembl
Innerchr6:32483918..32485201hg19UCSC Ensembl
Outerchr6:32483425..32486104hg19UCSC Ensembl
Innerchr6:32591896..32593179hg18UCSC Ensembl
Outerchr6:32591403..32594082hg18UCSC Ensembl
Innerchr6:32591896..32593179hg17UCSC Ensembl
Outerchr6:32591403..32594082hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382680
hg192680
hg182680
hg172680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18502
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)nssv15672
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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