A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16098



Internal ID15489721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16894359..16903116hg38UCSC Ensembl
Outerchr1:16889643..16903605hg38UCSC Ensembl
Innerchr1:17220854..17229611hg19UCSC Ensembl
Outerchr1:17216138..17230100hg19UCSC Ensembl
Innerchr1:17093441..17102198hg18UCSC Ensembl
Outerchr1:17088725..17102687hg18UCSC Ensembl
Innerchr1:16966160..16974917hg17UCSC Ensembl
Outerchr1:16961444..16975406hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3813963
hg1913963
hg1813963
hg1713963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18564
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)nssv16098
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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