A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14596



Internal ID15488647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29929066..29941831hg38UCSC Ensembl
Outerchr6:29928582..29942393hg38UCSC Ensembl
Innerchr6:29896843..29909608hg19UCSC Ensembl
Outerchr6:29896359..29910170hg19UCSC Ensembl
Innerchr6:30004822..30017587hg18UCSC Ensembl
Outerchr6:30004338..30018149hg18UCSC Ensembl
Innerchr6:30004822..30017587hg17UCSC Ensembl
Outerchr6:30004338..30018149hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3813812
hg1913812
hg1813812
hg1713812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA18552
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)nssv14596
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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