A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28323



Internal ID15843529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47048464..47052944hg38UCSC Ensembl
Outerchr17:47047783..47053699hg38UCSC Ensembl
Innerchr17:45125830..45130310hg19UCSC Ensembl
Outerchr17:45125149..45131065hg19UCSC Ensembl
Innerchr17:42480829..42485309hg18UCSC Ensembl
Outerchr17:42480148..42486064hg18UCSC Ensembl
Innerchr17:42480829..42485309hg17UCSC Ensembl
Outerchr17:42480148..42486064hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg385917
hg195917
hg185917
hg175917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9565
Supporting Variants
SamplesNA19221
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)nssv28323
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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