A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16791



Internal ID15838550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:105136887..105137576hg38UCSC Ensembl
Outerchr6:105136139..105138554hg38UCSC Ensembl
Innerchr6:105584762..105585451hg19UCSC Ensembl
Outerchr6:105584014..105586429hg19UCSC Ensembl
Innerchr6:105691455..105692144hg18UCSC Ensembl
Outerchr6:105690707..105693122hg18UCSC Ensembl
Innerchr6:105691455..105692144hg17UCSC Ensembl
Outerchr6:105690707..105693122hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
hg172416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7950
Supporting Variants
SamplesNA18860
Known GenesBVES, BVES-AS1
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)nssv16791
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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