A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26963



Internal ID15491828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33723473..33737868hg38UCSC Ensembl
Outerchr16:33723118..33739128hg38UCSC Ensembl
Innerchr16:33525940..33540335hg19UCSC Ensembl
Outerchr16:33525585..33541595hg19UCSC Ensembl
Innerchr16:33433441..33447836hg18UCSC Ensembl
Outerchr16:33433086..33449096hg18UCSC Ensembl
Innerchr16:33433441..33447836hg17UCSC Ensembl
Outerchr16:33433086..33449096hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3816011
hg1916011
hg1816011
hg1716011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18860
Known GenesRNU6-76P
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)nssv26963
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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