A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27907



Internal ID15496905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30759642..30787595hg38UCSC Ensembl
Outerchr16:30758882..30788121hg38UCSC Ensembl
Innerchr16:30770963..30798916hg19UCSC Ensembl
Outerchr16:30770203..30799442hg19UCSC Ensembl
Innerchr16:30678464..30706417hg18UCSC Ensembl
Outerchr16:30677704..30706943hg18UCSC Ensembl
Innerchr16:30678464..30706417hg17UCSC Ensembl
Outerchr16:30677704..30706943hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3829240
hg1929240
hg1829240
hg1729240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9438
Supporting Variants
SamplesNA19221
Known GenesC16orf93, PHKG2, RNF40, ZNF629
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)nssv27907
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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