A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23818



Internal ID15481480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46560541..46701874hg38UCSC Ensembl
Outerchr17:46560012..46702662hg38UCSC Ensembl
Innerchr17:44637907..44779240hg19UCSC Ensembl
Outerchr17:44637378..44780028hg19UCSC Ensembl
Innerchr17:41993223..42134422hg18UCSC Ensembl
Outerchr17:41992694..42135210hg18UCSC Ensembl
Innerchr17:41993223..42134422hg17UCSC Ensembl
Outerchr17:41992694..42135210hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38142651
hg19142651
hg18142517
hg17142517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA07048
Known GenesARL17A, ARL17B, NSF, NSFP1
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)nssv23818
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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