A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9456



Internal ID15500682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:72050862..72084423hg38UCSC Ensembl
Outerchr16:72084761..72118322hg19UCSC Ensembl
Outerchr16:70642262..70675823hg18UCSC Ensembl
Outerchr16:70642262..70675823hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3833562
hg1933562
hg1833562
hg1733562
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26646, nssv25843, nssv28117, nssv25088, nssv20659, nssv24326, nssv24270, nssv26659, nssv27053, nssv25864, nssv25437
SamplesNA18504, NA12155, NA18860, NA18572, NA19221, NA18517, NA19240, NA19173
Known GenesHP, HPR
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)nsv9456
Frequency
Sample Size31
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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