A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14017



Internal ID15483413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29975932..29976607hg38UCSC Ensembl
Outerchr6:29975476..29976936hg38UCSC Ensembl
Innerchr6:29943709..29944384hg19UCSC Ensembl
Outerchr6:29943253..29944713hg19UCSC Ensembl
Innerchr6:30051688..30052363hg18UCSC Ensembl
Outerchr6:30051232..30052692hg18UCSC Ensembl
Innerchr6:30051688..30052363hg17UCSC Ensembl
Outerchr6:30051232..30052692hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381461
hg191461
hg181461
hg171461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA11830
Known GenesHCG9
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)nssv14017
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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