A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23541



Internal ID15482608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46347284..46353042hg38UCSC Ensembl
Outerchr17:46346335..46355322hg38UCSC Ensembl
Innerchr17:44424650..44430408hg19UCSC Ensembl
Outerchr17:44423701..44432688hg19UCSC Ensembl
Innerchr17:41780406..41786164hg18UCSC Ensembl
Outerchr17:41779457..41788428hg18UCSC Ensembl
Innerchr17:41780406..41786164hg17UCSC Ensembl
Outerchr17:41779457..41788428hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388988
hg198988
hg188972
hg178972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA10863
Known GenesARL17A, ARL17B
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)nssv23541
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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