A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14338



Internal ID15496043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29942393..29943951hg38UCSC Ensembl
Outerchr6:29941831..29945040hg38UCSC Ensembl
Innerchr6:29910170..29911728hg19UCSC Ensembl
Outerchr6:29909608..29912817hg19UCSC Ensembl
Innerchr6:30018149..30019707hg18UCSC Ensembl
Outerchr6:30017587..30020796hg18UCSC Ensembl
Innerchr6:30018149..30019707hg17UCSC Ensembl
Outerchr6:30017587..30020796hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg383210
hg193210
hg183210
hg173210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA19144
Known GenesHLA-A
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)nssv14338
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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