A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14488



Internal ID15496035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31903913..31907220hg38UCSC Ensembl
Outerchr6:31903219..31912449hg38UCSC Ensembl
Innerchr6:31871690..31874997hg19UCSC Ensembl
Outerchr6:31870996..31880226hg19UCSC Ensembl
Innerchr6:31979669..31982976hg18UCSC Ensembl
Outerchr6:31978975..31988205hg18UCSC Ensembl
Innerchr6:31979669..31982976hg17UCSC Ensembl
Outerchr6:31978975..31988205hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg389231
hg199231
hg189231
hg179231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10823
Supporting Variants
SamplesNA19144
Known GenesC2
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)nssv14488
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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