A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16393



Internal ID15833521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35787381..35803537hg38UCSC Ensembl
Outerchr6:35786775..35804762hg38UCSC Ensembl
Innerchr6:35755158..35771314hg19UCSC Ensembl
Outerchr6:35754552..35772539hg19UCSC Ensembl
Innerchr6:35863136..35879292hg18UCSC Ensembl
Outerchr6:35862530..35880517hg18UCSC Ensembl
Innerchr6:35863136..35879292hg17UCSC Ensembl
Outerchr6:35862530..35880517hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3817988
hg1917988
hg1817988
hg1717988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7891
Supporting Variants
SamplesNA18504
Known GenesCLPS, CLPSL1
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)nssv16393
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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