A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26631



Internal ID15486253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33572387..33626356hg38UCSC Ensembl
Outerchr16:33571775..33626685hg38UCSC Ensembl
Innerchr16:33374854..33428823hg19UCSC Ensembl
Outerchr16:33374242..33429152hg19UCSC Ensembl
Innerchr16:33282355..33336324hg18UCSC Ensembl
Outerchr16:33281743..33336653hg18UCSC Ensembl
Innerchr16:33282355..33336324hg17UCSC Ensembl
Outerchr16:33281743..33336653hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3854911
hg1954911
hg1854911
hg1754911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18502
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)nssv26631
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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