A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25368



Internal ID15483697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18462711..18462877hg38UCSC Ensembl
Outerchr17:18462151..18463720hg38UCSC Ensembl
Innerchr17:18366025..18366191hg19UCSC Ensembl
Outerchr17:18365465..18367034hg19UCSC Ensembl
Innerchr17:18306750..18306916hg18UCSC Ensembl
Outerchr17:18306190..18307759hg18UCSC Ensembl
Innerchr17:18306750..18306916hg17UCSC Ensembl
Outerchr17:18306190..18307759hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381570
hg191570
hg181570
hg171570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA12155
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)nssv25368
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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