A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23230



Internal ID15481682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32847230..32849502hg38UCSC Ensembl
Outerchr16:32846522..32855079hg38UCSC Ensembl
Innerchr16:32858551..32860823hg19UCSC Ensembl
Outerchr16:32857843..32866400hg19UCSC Ensembl
Innerchr16:32766052..32768324hg18UCSC Ensembl
Outerchr16:32765344..32773901hg18UCSC Ensembl
Innerchr16:32766052..32768324hg17UCSC Ensembl
Outerchr16:32765344..32773901hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388558
hg198558
hg188558
hg178558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA10839
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)nssv23230
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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