A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23664



Internal ID15489666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19130234..19130684hg38UCSC Ensembl
Outerchr17:19129384..19131439hg38UCSC Ensembl
Innerchr17:19033547..19033997hg19UCSC Ensembl
Outerchr17:19032697..19034752hg19UCSC Ensembl
Innerchr17:18974272..18974722hg18UCSC Ensembl
Outerchr17:18973422..18975477hg18UCSC Ensembl
Innerchr17:18974272..18974722hg17UCSC Ensembl
Outerchr17:18973422..18975477hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382056
hg192056
hg182056
hg172056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18564
Known GenesGRAPL
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)nssv23664
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer