A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14845



Internal ID15840428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167096434..167098288hg38UCSC Ensembl
Outerchr6:167095106..167099080hg38UCSC Ensembl
Innerchr6:167509922..167511776hg19UCSC Ensembl
Outerchr6:167508594..167512568hg19UCSC Ensembl
Innerchr6:167429912..167431766hg18UCSC Ensembl
Outerchr6:167428584..167432558hg18UCSC Ensembl
Innerchr6:167480333..167482187hg17UCSC Ensembl
Outerchr6:167479005..167482979hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383975
hg193975
hg183975
hg173975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7997
Supporting Variants
SamplesNA18980
Known Genes
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)nssv14845
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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