A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23579



Internal ID15489262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19050698..19237148hg38UCSC Ensembl
Outerchr17:19050494..19237870hg38UCSC Ensembl
Innerchr17:18954011..19140461hg19UCSC Ensembl
Outerchr17:18953807..19141183hg19UCSC Ensembl
Innerchr17:18894736..19081054hg18UCSC Ensembl
Outerchr17:18894532..19081776hg18UCSC Ensembl
Innerchr17:18894736..19081054hg17UCSC Ensembl
Outerchr17:18894532..19081776hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38187377
hg19187377
hg18187245
hg17187245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18563
Known GenesEPN2, GRAPL
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)nssv23579
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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